Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	157680
Gene name	Vacuolar protein sorting 13 homolog B
Gene symbol	VPS13B
Synonyms (NCBI Gene)	BLTP5BCHS1COH1
Chromosome	8
Chromosome location	8q22.2
Summary	This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the function of the eye, hematological system, and central ner

401

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SNP ID	Visualize variation	Clinical significance	Consequence
rs28940272	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, missense variant
rs61754107	T>C	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs61754109	G>A	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, missense variant
rs61759485	A>G	Benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, genic downstream transcript variant, missense variant
rs73273219	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, missense variant
rs74485751	A>G,T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs112634620	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs113671330	A>G	Benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, genic downstream transcript variant, missense variant
rs117148013	C>T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, missense variant
rs118158347	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs120074149	T>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs120074150	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs120074151	G>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs120074152	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs120074153	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, missense variant
rs120074154	C>T	Likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs120074155	T>C	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs138417551	T>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs139141291	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs140095832	G>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, missense variant
rs140179844	G>A	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, missense variant
rs140353201	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs140601319	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs140936527	C>A	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs141324814	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs141703746	T>C,G	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs142674934	A>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, missense variant
rs142971568	A>G	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs143024324	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, missense variant, coding sequence variant
rs143205296	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs144350008	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, coding sequence variant, missense variant
rs144539572	C>T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs145208175	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs145279584	T>C,G	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, coding sequence variant, missense variant, synonymous variant
rs145547375	A>G	Benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs145569846	C>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, coding sequence variant, missense variant
rs145741622	C>T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, stop gained, intron variant
rs145890213	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, coding sequence variant, missense variant
rs146960401	G>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs148704031	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs148777544	A>T	Benign, uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, coding sequence variant, missense variant
rs149176010	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, synonymous variant
rs149318176	G>A	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, coding sequence variant, missense variant
rs149478021	C>G	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs149531438	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs149866274	T>G	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs150272676	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs150393340	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs150573530	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs150783688	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs180177327	CT>-	Not-provided, pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs180177329	->T	Not-provided, pathogenic-likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs180177354	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs180177355	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs180177356	C>A,T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, synonymous variant
rs180177357	->GCTC	Pathogenic, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs180177358	GT>-	Pathogenic, likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs180177359	->ATA	Pathogenic, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs180177360	G>A,C,T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, missense variant
rs180177361	C>G	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs180177362	AGTGTGGCTCAAGTTCAA>-	Pathogenic, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, inframe deletion
rs180177363	->AG	Pathogenic, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs180177364	->C	Pathogenic, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs180177365	C>T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs180177366	G>A,T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs180177367	GG>ATGGAGC,G	Pathogenic	Genic downstream transcript variant, coding sequence variant, splice donor variant
rs180177368	G>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs180177369	C>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs180177370	C>G,T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs180177371	AG>-	Pathogenic, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs180177372	G>A,T	Pathogenic, uncertain-significance	Genic downstream transcript variant, coding sequence variant, stop gained, missense variant
rs180177373	AT>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs180177374	->C	Pathogenic, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs199755508	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs201354177	T>A	Conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs201650333	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs201963516	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant
rs202046738	G>A,T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs202226215	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant
rs371364257	T>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs372327659	G>A	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs372949456	C>A,T	Pathogenic	Stop gained, missense variant, genic downstream transcript variant, coding sequence variant
rs373474658	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs373968888	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs386834054	CA>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs386834055	->A	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs386834056	TCTC>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs386834057	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs386834058	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs386834059	->GGAC	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs386834060	G>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs386834061	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs386834062	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs386834063	->T	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs386834064	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs386834065	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs386834066	AGTG>-	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs386834067	CAGTG>AA,AGAA	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, inframe indel, genic downstream transcript variant, frameshift variant
rs386834069	CCAGCTGTTC>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs386834070	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs386834071	G>T	Likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs386834072	ATTGT>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs386834073	A>G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs386834074	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs386834075	AC>T	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs386834077	G>A	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs386834078	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs386834079	A>G	Likely-pathogenic	Splice acceptor variant
rs386834080	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs386834081	T>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs386834082	T>A,C	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs386834083	->T	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs386834084	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs386834085	->A	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs386834086	C>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs386834087	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs386834088	CTT>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, inframe deletion
rs386834089	A>-,AA	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs386834090	ATAA>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs386834091	T>C	Pathogenic	Splice donor variant, genic downstream transcript variant
rs386834093	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs386834094	->T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs386834096	->A	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs386834097	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs386834098	AT>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs386834099	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs386834100	CA>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs386834101	GA>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs386834102	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs386834103	A>G	Likely-pathogenic, pathogenic	Genic downstream transcript variant, splice acceptor variant
rs386834104	A>G	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs386834105	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs386834106	G>A	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs386834107	C>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs386834108	G>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs386834109	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs386834110	C>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs386834111	C>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs386834112	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, stop gained
rs386834113	C>T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs386834114	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs386834115	A>G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs386834116	A>G	Likely-pathogenic, pathogenic	Genic downstream transcript variant, intron variant
rs386834117	GA>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs386834119	G>A,C,T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, pathogenic	Genic downstream transcript variant, splice acceptor variant
rs386834120	A>C,G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs386834121	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs386834122	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs398124330	T>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, intron variant
rs533701597	A>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant
rs542757501	G>A	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs587777382	T>C	Pathogenic	Genic downstream transcript variant, splice donor variant
rs727504219	T>A	Likely-pathogenic, pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs745404712	A>C,G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs747217399	A>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs747363890	G>A,C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs748404277	AT>-	Uncertain-significance, likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs750003804	G>C,T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs750092574	G>A,C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs750609612	G>A	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs752429062	C>G,T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, missense variant
rs753282248	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs753645306	C>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs753770252	C>G,T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, missense variant
rs754016783	->A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs755125969	C>-	Pathogenic-likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs755996065	C>A,T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, synonymous variant
rs756013171	G>A,C,T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, splice donor variant
rs758028194	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs759374475	G>A,T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs759536357	ACTT>-	Likely-pathogenic, pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs760564848	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs761273297	T>C	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs761736983	T>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs763079458	G>A,T	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs763909903	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs764225649	G>A,T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs764544747	T>-	Conflicting-interpretations-of-pathogenicity	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs764776104	C>G,T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, stop gained
rs765302278	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs765998879	T>A	Likely-pathogenic	Intron variant, coding sequence variant, genic downstream transcript variant, stop gained
rs767239312	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs767518464	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs767858119	C>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs768342041	G>C,T	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs768801125	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs771308343	G>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs771667880	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs773094891	T>A,C,G	Likely-pathogenic	Missense variant, stop gained, synonymous variant, genic downstream transcript variant, coding sequence variant
rs773945333	ATCT>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs774357106	A>-,AA	Pathogenic, likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs775883776	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs777593389	C>T	Pathogenic-likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs780598553	G>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs781781537	C>A,T	Not-provided, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs786204456	CCAGCTGTTCT>G	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs786204533	->T	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs794727771	C>G	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs797046098	G>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs863223386	T>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs867112705	A>G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs869312923	C>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs875989882	CTCACACTGGACAACATTTTTCTCTGTGTGGCCCCGGGAGCTG>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs886041184	A>-	Pathogenic, likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs886041185	->A	Pathogenic, likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs886041323	CT>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs886041586	TT>-	Pathogenic, likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs886041587	TGTC>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs886041678	C>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs886042930	->T	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs886062546	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs930144563	G>A	Conflicting-interpretations-of-pathogenicity	Splice acceptor variant, genic downstream transcript variant
rs933746831	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs941969577	C>T	Pathogenic-likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs980463746	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1014496937	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1034855385	G>A,T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1057516245	A>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057516274	AC>G	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057516276	T>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057516284	CAAA>TGT	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057516287	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1057516302	C>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057516324	A>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057516331	G>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1057516422	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1057516437	T>G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1057516484	G>A,C	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, stop gained
rs1057516489	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1057516494	C>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1057516532	T>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057516538	T>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057516558	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1057516559	G>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1057516568	C>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057516614	CC>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057516633	C>T	Pathogenic-likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1057516651	C>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057516653	->C	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057516660	A>C,T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, stop gained
rs1057516663	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1057516670	->ATCATATCAGGCCTCTGAA	Pathogenic-likely-pathogenic	Genic downstream transcript variant, inframe indel, coding sequence variant, stop gained
rs1057516681	A>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1057516694	G>T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1057516789	A>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057516807	AGT>-	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant, coding sequence variant, intron variant
rs1057516834	AA>T	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057516840	G>T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1057516841	TATAGC>-	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant, coding sequence variant, intron variant
rs1057516845	G>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057516857	G>A	Likely-pathogenic	Splice donor variant
rs1057516923	G>A,T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1057516926	C>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057516971	C>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057517063	G>A,T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1057517076	AG>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057517137	->T	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057517168	G>T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1057517177	AACAAGAC>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057517202	CACTGGATGA>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057517236	T>G	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1057517255	A>CC	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057517283	G>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057517295	G>A,T	Likely-pathogenic	Splice donor variant
rs1057517318	A>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057517319	TTTG>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057517328	->T	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057517338	AAAAG>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057517376	GC>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057517385	C>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1057517393	T>C	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1057517438	->G	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057517441	G>A	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1057517447	A>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057518228	->AGGG	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057518939	A>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057519182	T>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1057520768	G>A	Pathogenic	Splice acceptor variant
rs1057520769	A>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1064793747	CA>T	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1064795251	G>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1064796925	TT>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1085307957	G>T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1161589003	TCAC>-,TCACTCAC	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1176397159	->A	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1188811827	T>C	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1200459145	G>A	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1235993153	G>C	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1301330402	->TTT	Likely-pathogenic	Inframe indel, coding sequence variant, stop gained, genic downstream transcript variant
rs1347701279	G>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1354326532	TTTG>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1357171752	T>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1364947213	->TACT	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1378196300	A>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1394681818	T>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1408744761	C>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1434257397	T>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1456528242	A>C	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1469729130	G>A	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1554560668	GTTGGGGCAACTGGCGTTGGTCAGAG>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554560735	GT>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554565484	G>C	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1554565537	ACATT>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554565558	G>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554565645	G>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554566396	T>C	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1554566596	G>T	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1554569259	A>G	Pathogenic-likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1554570388	T>C	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1554574028	CAGA>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554575679	A>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554575693	GGAACACAGGTCAG>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, splice donor variant, intron variant
rs1554579522	GTTG>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, splice acceptor variant
rs1554581156	A>G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1554581267	TC>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554581430	TTCA>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554581504	TT>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554581632	TT>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554581676	AC>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554581821	TCT>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, inframe deletion
rs1554586953	->G	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554586972	G>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554586994	CA>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554587021	G>T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1554588038	A>C	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1554588353	A>G	Pathogenic, pathogenic-likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1554588477	AG>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554588489	AG>C	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554590314	->AGAT	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554612610	A>G	Likely-pathogenic	Intron variant
rs1554622608	TATC>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1554622622	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1554622647	->T	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1554622718	A>-	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554625617	C>T	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554625632	C>T	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554625693	GAGT>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1554625838	A>T	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554625872	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1554634091	G>C	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1554634138	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1554645551	C>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1554652265	T>C	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1554665974	A>G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1554666009	G>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1554706114	A>G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1554706149	GCTCAATC>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554706285	G>A	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1554706662	TC>AAT	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554765140	C>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554765173	T>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554767735	A>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554788238	G>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554793521	->T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554807146	G>T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1554814266	T>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1554814271	->T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554822819	T>C	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1554826566	AC>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554826615	GA>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554843814	A>T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1554843942	->A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554852945	G>C	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1554853667	T>CC	Likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554853676	G>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554884575	->T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1554884733	->GTCC	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554884838	->T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1554884932	A>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554892004	A>T	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1554892040	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1554911430	G>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554911481	->T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554911731	GGAGAGCTGT>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554922054	->TA	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554924412	A>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554948192	G>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554952465	->AGGCA	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554952467	->C	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554952554	C>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554955952	G>A	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1563497844	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1563499381	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1563509743	->C	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1563700124	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1563700205	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1563726973	G>A	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1563908020	T>C	Pathogenic-likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1588038825	TAAT>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1588038976	A>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1588048848	T>C	Likely-pathogenic	Splice donor variant
rs1588095580	A>G	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1588410519	GGCTACAGTCCAAAATCAAGGTATCAGATCACATTTATGTAATGTGATCTGTTTTCTCTGGCCTCCAGGGTTTGCATACGTCCCCAACAGTTTCACAATACAACCAACTAGGGTAAGGGAAGAAGAAGTTAGAACTTTTATTTTTATTTTTATCCCATATATTTAATTTCTGTTAATGTACGGTTTATAGTGTATATAATTACTGACAGAATTTTCAGTAGCATGTAAATTGTTTAGCACCGTGGTCTCAGGAAT	Likely-pathogenic	Intron variant, genic downstream transcript variant, splice acceptor variant, coding sequence variant
rs1588491546	C>T	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1588491595	GT>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1588579347	->T	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1588635717	CA>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1588743576	C>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1588810676	->G	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1588810695	->AACA	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1588811810	->CTCT	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant

201

Show/Hide all (201)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018276	hsa-miR-335-5p	Microarray	18185580
MIRT045176	hsa-miR-186-5p	CLASH	23622248
MIRT044160	hsa-miR-30e-5p	CLASH	23622248
MIRT488703	hsa-miR-4705	PAR-CLIP	20371350
MIRT488701	hsa-miR-4494	PAR-CLIP	20371350
MIRT488702	hsa-miR-499b-5p	PAR-CLIP	20371350
MIRT488700	hsa-miR-3613-5p	PAR-CLIP	20371350
MIRT488703	hsa-miR-4705	PAR-CLIP	23592263
MIRT488701	hsa-miR-4494	PAR-CLIP	23592263
MIRT488702	hsa-miR-499b-5p	PAR-CLIP	23592263
MIRT488700	hsa-miR-3613-5p	PAR-CLIP	23592263
MIRT488703	hsa-miR-4705	PAR-CLIP	20371350
MIRT488701	hsa-miR-4494	PAR-CLIP	20371350
MIRT488702	hsa-miR-499b-5p	PAR-CLIP	20371350
MIRT488700	hsa-miR-3613-5p	PAR-CLIP	20371350
MIRT488703	hsa-miR-4705	PAR-CLIP	23592263
MIRT488701	hsa-miR-4494	PAR-CLIP	23592263
MIRT488702	hsa-miR-499b-5p	PAR-CLIP	23592263
MIRT488700	hsa-miR-3613-5p	PAR-CLIP	23592263
MIRT1485928	hsa-miR-1273e	CLIP-seq
MIRT1485929	hsa-miR-1303	CLIP-seq
MIRT1485930	hsa-miR-1324	CLIP-seq
MIRT1485931	hsa-miR-2114	CLIP-seq
MIRT1485932	hsa-miR-300	CLIP-seq
MIRT1485933	hsa-miR-3135b	CLIP-seq
MIRT1485934	hsa-miR-3159	CLIP-seq
MIRT1485935	hsa-miR-361-5p	CLIP-seq
MIRT1485936	hsa-miR-3616-5p	CLIP-seq
MIRT1485937	hsa-miR-3647-5p	CLIP-seq
MIRT1485938	hsa-miR-3652	CLIP-seq
MIRT1485939	hsa-miR-3689a-3p	CLIP-seq
MIRT1485940	hsa-miR-3689c	CLIP-seq
MIRT1485941	hsa-miR-371-5p	CLIP-seq
MIRT1485942	hsa-miR-371b-5p	CLIP-seq
MIRT1485943	hsa-miR-381	CLIP-seq
MIRT1485944	hsa-miR-4263	CLIP-seq
MIRT1485945	hsa-miR-4311	CLIP-seq
MIRT1485946	hsa-miR-4430	CLIP-seq
MIRT1485947	hsa-miR-4646-5p	CLIP-seq
MIRT1485948	hsa-miR-4699-3p	CLIP-seq
MIRT1485949	hsa-miR-4728-5p	CLIP-seq
MIRT1485950	hsa-miR-4729	CLIP-seq
MIRT1485951	hsa-miR-4766-5p	CLIP-seq
MIRT1485952	hsa-miR-4799-5p	CLIP-seq
MIRT1485953	hsa-miR-485-5p	CLIP-seq
MIRT1485954	hsa-miR-495	CLIP-seq
MIRT1485955	hsa-miR-548ae	CLIP-seq
MIRT1485956	hsa-miR-548aj	CLIP-seq
MIRT1485957	hsa-miR-548am	CLIP-seq
MIRT1485958	hsa-miR-548x	CLIP-seq
MIRT1485959	hsa-miR-573	CLIP-seq
MIRT1485960	hsa-miR-576-5p	CLIP-seq
MIRT1485961	hsa-miR-579	CLIP-seq
MIRT1485962	hsa-miR-624	CLIP-seq
MIRT1485963	hsa-miR-656	CLIP-seq
MIRT1485964	hsa-miR-668	CLIP-seq
MIRT1485965	hsa-miR-877	CLIP-seq
MIRT1485966	hsa-miR-1252	CLIP-seq
MIRT1485967	hsa-miR-2110	CLIP-seq
MIRT1485968	hsa-miR-3164	CLIP-seq
MIRT1485969	hsa-miR-4271	CLIP-seq
MIRT1485970	hsa-miR-4289	CLIP-seq
MIRT1485971	hsa-miR-4533	CLIP-seq
MIRT1485972	hsa-miR-4633-5p	CLIP-seq
MIRT1485973	hsa-miR-4725-3p	CLIP-seq
MIRT1485950	hsa-miR-4729	CLIP-seq
MIRT1485974	hsa-miR-4747-5p	CLIP-seq
MIRT1485975	hsa-miR-491-5p	CLIP-seq
MIRT1485961	hsa-miR-579	CLIP-seq
MIRT1485976	hsa-miR-593	CLIP-seq
MIRT1485977	hsa-miR-617	CLIP-seq
MIRT2146077	hsa-miR-1264	CLIP-seq
MIRT2146078	hsa-miR-1269	CLIP-seq
MIRT2146079	hsa-miR-1269b	CLIP-seq
MIRT2146080	hsa-miR-1288	CLIP-seq
MIRT1485939	hsa-miR-3689a-3p	CLIP-seq
MIRT1485940	hsa-miR-3689c	CLIP-seq
MIRT2146081	hsa-miR-3692	CLIP-seq
MIRT2146082	hsa-miR-376a	CLIP-seq
MIRT2146083	hsa-miR-376b	CLIP-seq
MIRT2146084	hsa-miR-4515	CLIP-seq
MIRT2146085	hsa-miR-4694-3p	CLIP-seq
MIRT2146086	hsa-miR-4698	CLIP-seq
MIRT1485949	hsa-miR-4728-5p	CLIP-seq
MIRT2146087	hsa-miR-4740-5p	CLIP-seq
MIRT2146088	hsa-miR-4774-5p	CLIP-seq
MIRT2366602	hsa-miR-4786-5p	CLIP-seq
MIRT2366603	hsa-miR-769-5p	CLIP-seq
MIRT2463265	hsa-miR-1251	CLIP-seq
MIRT2463266	hsa-miR-1262	CLIP-seq
MIRT2463267	hsa-miR-3156-3p	CLIP-seq
MIRT2463268	hsa-miR-4293	CLIP-seq
MIRT2463269	hsa-miR-4301	CLIP-seq
MIRT2463270	hsa-miR-4701-3p	CLIP-seq
MIRT2463271	hsa-miR-596	CLIP-seq
MIRT2463272	hsa-miR-661	CLIP-seq
MIRT2463265	hsa-miR-1251	CLIP-seq
MIRT2463266	hsa-miR-1262	CLIP-seq
MIRT2463267	hsa-miR-3156-3p	CLIP-seq
MIRT2463268	hsa-miR-4293	CLIP-seq
MIRT2463269	hsa-miR-4301	CLIP-seq
MIRT2463270	hsa-miR-4701-3p	CLIP-seq
MIRT2463271	hsa-miR-596	CLIP-seq
MIRT2463272	hsa-miR-661	CLIP-seq
MIRT2659995	hsa-miR-1207-3p	CLIP-seq
MIRT2659996	hsa-miR-1228	CLIP-seq
MIRT2463265	hsa-miR-1251	CLIP-seq
MIRT2146078	hsa-miR-1269	CLIP-seq
MIRT2146079	hsa-miR-1269b	CLIP-seq
MIRT2659997	hsa-miR-1285	CLIP-seq
MIRT2146080	hsa-miR-1288	CLIP-seq
MIRT1485931	hsa-miR-2114	CLIP-seq
MIRT2659998	hsa-miR-3122	CLIP-seq
MIRT1485933	hsa-miR-3135b	CLIP-seq
MIRT2659999	hsa-miR-3150b-3p	CLIP-seq
MIRT2660000	hsa-miR-3157-5p	CLIP-seq
MIRT2660001	hsa-miR-3174	CLIP-seq
MIRT2660002	hsa-miR-3183	CLIP-seq
MIRT2660003	hsa-miR-3187-5p	CLIP-seq
MIRT2660004	hsa-miR-323-5p	CLIP-seq
MIRT2660005	hsa-miR-3545-3p	CLIP-seq
MIRT1485938	hsa-miR-3652	CLIP-seq
MIRT2660006	hsa-miR-3675-3p	CLIP-seq
MIRT1485939	hsa-miR-3689a-3p	CLIP-seq
MIRT1485940	hsa-miR-3689c	CLIP-seq
MIRT2660007	hsa-miR-3689d	CLIP-seq
MIRT2660008	hsa-miR-3913-5p	CLIP-seq
MIRT2660009	hsa-miR-3945	CLIP-seq
MIRT2660010	hsa-miR-4253	CLIP-seq
MIRT2660011	hsa-miR-4282	CLIP-seq
MIRT1485946	hsa-miR-4430	CLIP-seq
MIRT2146084	hsa-miR-4515	CLIP-seq
MIRT2660012	hsa-miR-4530	CLIP-seq
MIRT2660013	hsa-miR-4689	CLIP-seq
MIRT2660014	hsa-miR-4691-3p	CLIP-seq
MIRT2146085	hsa-miR-4694-3p	CLIP-seq
MIRT2660015	hsa-miR-4712-3p	CLIP-seq
MIRT2660016	hsa-miR-4723-3p	CLIP-seq
MIRT1485949	hsa-miR-4728-5p	CLIP-seq
MIRT2146087	hsa-miR-4740-5p	CLIP-seq
MIRT2146088	hsa-miR-4774-5p	CLIP-seq
MIRT2660017	hsa-miR-4784	CLIP-seq
MIRT2366602	hsa-miR-4786-5p	CLIP-seq
MIRT1485953	hsa-miR-485-5p	CLIP-seq
MIRT2660018	hsa-miR-515-5p	CLIP-seq
MIRT2660019	hsa-miR-548aa	CLIP-seq
MIRT2660020	hsa-miR-548c-3p	CLIP-seq
MIRT2660021	hsa-miR-590-3p	CLIP-seq
MIRT2660022	hsa-miR-612	CLIP-seq
MIRT2366603	hsa-miR-769-5p	CLIP-seq
MIRT2660023	hsa-miR-876-3p	CLIP-seq
MIRT2660024	hsa-miR-921	CLIP-seq
MIRT2659995	hsa-miR-1207-3p	CLIP-seq
MIRT2659996	hsa-miR-1228	CLIP-seq
MIRT2463265	hsa-miR-1251	CLIP-seq
MIRT2463266	hsa-miR-1262	CLIP-seq
MIRT2146078	hsa-miR-1269	CLIP-seq
MIRT2146079	hsa-miR-1269b	CLIP-seq
MIRT2659997	hsa-miR-1285	CLIP-seq
MIRT2146080	hsa-miR-1288	CLIP-seq
MIRT2659998	hsa-miR-3122	CLIP-seq
MIRT2659999	hsa-miR-3150b-3p	CLIP-seq
MIRT2463267	hsa-miR-3156-3p	CLIP-seq
MIRT2660001	hsa-miR-3174	CLIP-seq
MIRT2660002	hsa-miR-3183	CLIP-seq
MIRT2660003	hsa-miR-3187-5p	CLIP-seq
MIRT2660005	hsa-miR-3545-3p	CLIP-seq
MIRT2660006	hsa-miR-3675-3p	CLIP-seq
MIRT1485939	hsa-miR-3689a-3p	CLIP-seq
MIRT1485940	hsa-miR-3689c	CLIP-seq
MIRT2660007	hsa-miR-3689d	CLIP-seq
MIRT2146081	hsa-miR-3692	CLIP-seq
MIRT2660008	hsa-miR-3913-5p	CLIP-seq
MIRT2660009	hsa-miR-3945	CLIP-seq
MIRT2660010	hsa-miR-4253	CLIP-seq
MIRT2660011	hsa-miR-4282	CLIP-seq
MIRT2463268	hsa-miR-4293	CLIP-seq
MIRT2463269	hsa-miR-4301	CLIP-seq
MIRT2146084	hsa-miR-4515	CLIP-seq
MIRT2660012	hsa-miR-4530	CLIP-seq
MIRT1485947	hsa-miR-4646-5p	CLIP-seq
MIRT2660013	hsa-miR-4689	CLIP-seq
MIRT2146085	hsa-miR-4694-3p	CLIP-seq
MIRT2146086	hsa-miR-4698	CLIP-seq
MIRT2463270	hsa-miR-4701-3p	CLIP-seq
MIRT2660015	hsa-miR-4712-3p	CLIP-seq
MIRT2660016	hsa-miR-4723-3p	CLIP-seq
MIRT1485949	hsa-miR-4728-5p	CLIP-seq
MIRT2146087	hsa-miR-4740-5p	CLIP-seq
MIRT2146088	hsa-miR-4774-5p	CLIP-seq
MIRT2660017	hsa-miR-4784	CLIP-seq
MIRT2366602	hsa-miR-4786-5p	CLIP-seq
MIRT2660018	hsa-miR-515-5p	CLIP-seq
MIRT2695029	hsa-miR-542-3p	CLIP-seq
MIRT2660019	hsa-miR-548aa	CLIP-seq
MIRT2660021	hsa-miR-590-3p	CLIP-seq
MIRT2463271	hsa-miR-596	CLIP-seq
MIRT2660022	hsa-miR-612	CLIP-seq
MIRT2463272	hsa-miR-661	CLIP-seq
MIRT2366603	hsa-miR-769-5p	CLIP-seq
MIRT2660024	hsa-miR-921	CLIP-seq

Show/Hide all (39)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IDA	25492866
GO:0001675	Process	Acrosome assembly	IEA
GO:0001675	Process	Acrosome assembly	ISS
GO:0002080	Component	Acrosomal membrane	IEA
GO:0002080	Component	Acrosomal membrane	ISS
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005768	Component	Endosome	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0006869	Process	Lipid transport	IEA
GO:0007030	Process	Golgi organization	IMP	25492866
GO:0007399	Process	Nervous system development	IMP	32560273
GO:0007417	Process	Central nervous system development	IEA
GO:0007417	Process	Central nervous system development	ISS
GO:0007420	Process	Brain development	IEA
GO:0007517	Process	Muscle organ development	IEA
GO:0007613	Process	Memory	IEA
GO:0008289	Function	Lipid binding	IEA
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	IMP	32375900
GO:0021542	Process	Dentate gyrus development	IEA
GO:0031175	Process	Neuron projection development	TAS	25492866
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031901	Component	Early endosome membrane	IEA
GO:0032266	Function	Phosphatidylinositol-3-phosphate binding	IEA
GO:0032266	Function	Phosphatidylinositol-3-phosphate binding	ISS
GO:0032458	Process	Slow endocytic recycling	IDA	30962439
GO:0032588	Component	Trans-Golgi network membrane	IDA	21865173
GO:0033106	Component	Cis-Golgi network membrane	IDA	21865173
GO:0033116	Component	Endoplasmic reticulum-Golgi intermediate compartment membrane	IDA	21865173
GO:0033116	Component	Endoplasmic reticulum-Golgi intermediate compartment membrane	IEA
GO:0035176	Process	Social behavior	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0036438	Process	Maintenance of lens transparency	IEA
GO:0036438	Process	Maintenance of lens transparency	ISS
GO:0055038	Component	Recycling endosome membrane	IEA
GO:0060323	Process	Head morphogenesis	IEA
GO:0060612	Process	Adipose tissue development	IMP	26358774
GO:0090168	Process	Golgi reassembly	IMP	21865173

MIM	HGNC	e!Ensembl
607817	2183	ENSG00000132549

Q7Z7G8

Protein name

Intermembrane lipid transfer protein VPS13B (Cohen syndrome protein 1) (Vacuolar protein sorting-associated protein 13B)

Protein function

Mediates the transfer of lipids between membranes at organelle contact sites (By similarity). Binds phosphatidylinositol 3-phosphate (By similarity). Functions as a tethering factor in the slow endocytic recycling pathway, to assist traffic betw

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12624	Chorein_N	2 → 120	N-terminal region of Chorein or VPS13	Family
PF06650	SHR-BD	2628 → 2728	SHR-binding domain of vacuolar-sorting associated protein 13	Family
PF16909	VPS13_C	3571 → 3734	Vacuolar-sorting-associated 13 protein C-terminal	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed (PubMed:12730828). There is apparent differential expression of different transcripts (PubMed:12730828, PubMed:19006247). In fetal brain, lung, liver, and kidney, two transcripts of 2 and 5 kb are identified (PubMed:12

Sequence

MLESYVTPILMSYVNRYIKNLKPSDLQLSLWGGDVVLSKLELKLDVLEQELKLPFTFLSG
HIHELRIHVPWTKLGSEPVVITINTMECILKLKDGIQDDHESCGSNSTNRSTAESTKSSI
KPRRMQQAAPTDPDLPPGYVQSLIRRVVNNVNIVINNLILKYVEDDIVLSVNITSAECYT
VGELWDRAFMDISATDLVLRKVINFSDCTVCLDKRNASGKIEFYQDPLLYKCSFRTRLHF
TYENLNSKMPSVIKIHTLVESLKLSITDQQLPMFIRIMQLGIALYYGEIGNFKEGEIEDL
TCHNKDMLGNITGSEDETRIDMQYPAQHKGQELYSQQDEEQPQGWVSWAWSFVPAIVSYD
DGEEDFVGNDPASTMHQQKAQTLKDPIVSIGFYCTKATVTFKLTEMQVESSYYSPQKVKS
KEVLCWEQEGTTVEALMMGEPFFDCQIGFVGCRAMCLKGIMGVKDFEENMNRSETEACFF
ICGDNLSTKGFTYLTNSLFDYRSPENNGTRAEFILDSTHHKETYTEIAGMQRFGAFYMDY
LYTMENTSGKGSTNQQDFSSGKSEDLGTVQEKSTKSLVIGPLDFRLDSSAVHRILKMIVC
ALEHEYEPYSRLKSDIKDENETILNPEEVALLEEYIPTRHTSVTLLKCTCTISMAEFNLL
DHLLPVIMGEKNSSNFMNTTNFQSLRPLPSIRILVDKINLEHSVPMYAEQLVHVVSSLTQ
PSDNLLHYCYVHCYLKIFGFQAGLTSLDCSGSYCLPVPVIPSFSTALYGKLLKLPTCWTK
RSQIAITEGIFELPNLTIQATRAQTLLLQAIYQSWSHLGNVSSSAVIEALINEIFLSIGV
KSKNPLPTLEGSIQNVELKYCSTSLVKCASGTMGSIKICAKAPVDSGKEKLIPLLQGPSD
TKDLHSTKWLNESRKPESLLAPDLMAFTIQVPQYIDYCHNSGAVLLCSIQGLAVNIDPIL
YTWLIYQPQKRTSRHMQQQPVVAVPLVMPVCRRKEDEVSIGSAPLAKQQSYQASEYASSP
VKTKTVTESRPLSVPVKAMLNISESCRSPEERMKEFIGIVWNAVKHLTLQLEVQSCCVFI
PNDSLPSPSTIVSGDIPGTVRSWYHGQTSMPGTLVLCLPQIKIISAGHKYMEPLQEIPFV
IPRPILEEGDAFPWTISLHNFSIYTLLGKQVTLCLVEPMGCTSTLAVTSQKLLATGPDTR
HSFVVCLHVDLESLEIKCSNPQVQLFYELTDIMNKVWNKIQKRGNLNLSPTSPETMAGPV
PTSPVRSSIGTAPPDTSTCSPSADIGTTTEGDSIQAGEESPFSDSVTLEQTTSNIGGTSG
RVSLWMQWVLPKITIKLFAPDPENKGTEVCMVSELEDLSASIDVQDVYTKVKCKIESFNI
DHYRSSLGEECWSLGQCGGVFLSCTDKLNRRTLLVRPISKQDPFSNCSGFFPSTTTKLLD
GTHQQHGFLSLTYTKAVTKNVRHKLTSRNERRSFHKLSEGLMDGSPHFLHEILLSAQAFD
IVLYFPLLNAIASIFQAKLPKTQKEKRKSPGQPMRTHTLTSRNLPLIYVNTSVIRIFIPK
TEEMQPTVEANQAAKEDTVVLKIGSVAMAPQADNPLGRSVLRKDIYQRALNLGILRDPGS
EIEDRQYQIDLQSINIGTAQWHQLKPEKESVSGGVVTETERNSQNPALEWNMASSIRRHQ
ERRAILTPVLTDFSVRITGAPAVIFTKVVSPENLHTEEILVCGHSLEVNITTNLDFFLSV
AQVQLLHQLIVANMTGLEPSNKAAEISKQEQKKVDIFDGGMAETSSRYSGAQDSGIGSDS
VKIRIVQIEQHSGASQHRIARPSRQSSIVKNLNFIPFDIFITASRISLMTYSCMALSKSK
SQEQKNNEKTDKSSLNLPEVDSDVAKPNQACISTVTAEDLLRSSISFPSGKKIGVLSLES
LHASTRSSARQALGITIVRQPGRRGTGDLQLEPFLYFIVSQPSLLLSCHHRKQRVEVSIF
DAVLKGVASDYKCIDPGKTLPEALDYCTVWLQTVPGEIDSKSGIPPSFITLQIKDFLNGP
ADVNLDISKPLKANLSFTKLDQINLFLKKIKNAHSLAHSEETSAMSNTMVNKDDLPVSKY
YRGKLSKPKIHGDGVQKISAQENMWRAVSCFQKISVQTTQIVISMETVPHTSKPCLLASL
SNLNGSLSVKATQKVPGIILGSSFLLSINDFLLKTSLKERSRILIGPCCATANLEAKWCK
HSGNPGPEQSIPKISIDLRGGLLQVFWGQEHLNCLVLLHELLNGYLNEEGNFEVQVSEPV
PQMSSPVEKNQTFKSEQSSDDLRTGLFQYVQDAESLKLPGVYEVLFYNETEDCPGMMLWR
YPEPRVLTLVRITPVPFNTTEDPDISTADLGDVLQVPCSLEYWDELQKVFVAFREFNLSE
SKVCELQLPDINLVNDQKKLVSSDLWRIVLNSSQNGADDQSSASESGSQSTCDPLVTPTA
LAACTRVDSCFTPWFVPSLCVSFQFAHLEFHLCHHLDQLGTAAPQYLQPFVSDRNMPSEL
EYMIVSFREPHMYLRQWNNGSVCQEIQFLAQADCKLLECRNVTMQSVVKPFSIFGQMAVS
SDVVEKLLDCTVIVDSVFVNLGQHVVHSLNTAIQAWQQNKCPEVEELVFSHFVICNDTQE
TLRFGQVDTDENILLASLHSHQYSWRSHKSPQLLHICIEGWGNWRWSEPFSVDHAGTFIR
TIQYRGRTASLIIKVQQLNGVQKQIIICGRQIICSYLSQSIELKVVQHYIGQDGQAVVRE
HFDCLTAKQKLPSYILENNELTELCVKAKGDEDWSRDVCLESKAPEYSIVIQVPSSNSSI
IYVWCTVLTLEPNSQVQQRMIVFSPLFIMRSHLPDPIIIHLEKRSLGLSETQIIPGKGQE
KPLQNIEPDLVHHLTFQAREEYDPSDCAVPISTSLIKQIATKVHPGGTVNQILDEFYGPE
KSLQPIWPYNKKDSDRNEQLSQWDSPMRVKLSIWKPYVRTLLIELLPWALLINESKWDLW
LFEGEKIVLQVPAGKIIIPPNFQEAFQIGIYWANTNTVHKSVAIKLVHNLTSPKWKDGGN
GEVVTLDEEAFVDTEIRLGAFPGHQKLCQFCISSMVQQGIQIIQIEDKTTIINNTPYQIF
YKPQLSVCNPHSGKEYFRVPDSATFSICPGGEQPAMKSSSLPCWDLMPDISQSVLDASLL
QKQIMLGFSPAPGADSSQCWSLPAIVRPEFPRQSVAVPLGNFRENGFCTRAIVLTYQEHL
GVTYLTLSEDPSPRVIIHNRCPVKMLIKENIKDIPKFEVYCKKIPSECSIHHELYHQISS
YPDCKTKDLLPSLLLRVEPLDEVTTEWSDAIDINSQGTQVVFLTGFGYVYVDVVHQCGTV
FITVAPEGKAGPILTNTNRAPEKIVTFKMFITQLSLAVFDDLTHHKASAELLRLTLDNIF
LCVAPGAGPLPGEEPVAALFELYCVEICCGDLQLDNQLYNKSNFHFAVLVCQGEKAEPIQ
CSKMQSLLISNKELEEYKEKCFIKLCITLNEGKSILCDINEFSFELKPARLYVEDTFVYY
IKTLFDTYLPNSRLAGHSTHLSGGKQVLPMQVTQHARALVNPVKLRKLVIQPVNLLVSIH
ASLKLYIASDHTPLSFSVFERGPIFTTARQLVHALAMHYAAGALFRAGWVVGSLDILGSP
ASLVRSIGNGVADFFRLPYEGLTRGPGAFVSGVSRGTTSFVKHISKGTLTSITNLATSLA
RNMDRLSLDEEHYNRQEEWRRQLPESLGEGLRQGLSRLGISLLGAIAGIVDQPMQNFQKT
SEAQASAGHKAKGVISGVGKGIMGVFTKPIGGAAELVSQTGYGILHGAGLSQLPKQRHQP
SDLHADQAPNSHVKYVWKMLQSLGRPEVHMALDVVLVRGSGQEHEGCLLLTSEVLFVVSV
SEDTQQQAFPVTEIDCAQDSKQNNLLTVQLKQPRVACDVEVDGVRERLSEQQYNRLVDYI
TKTSCHLAPSCSSMQIPCPVVAAEPPPSTVKTYHYLVDPHFAQVFLSKFTMVKNKALRKG
FP

Sequence length

4022

Interactions

View interactions

6224

Show/Hide Causal Diseases (19)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal brain morphology	Likely pathogenic; Pathogenic	rs1057517295	RCV000454258
Abnormality of the eye	Likely pathogenic; Pathogenic	rs140936527, rs748404277	RCV000505106 RCV000504997
Abnormality of the nervous system	Likely pathogenic; Pathogenic	rs933746831, rs761736983, rs1833092121	RCV001814211 RCV001814256 RCV001814277
Acute myeloid leukemia	Likely pathogenic; Pathogenic	rs1554566596	RCV005901321
Cohen syndrome	Pathogenic; Likely pathogenic	rs1810006084, rs140936527, rs140353201, rs1811379645, rs1816422602, rs2133510569, rs1846848656, rs2132624625, rs2132515671, rs141703746, rs780902262, rs1057517441, rs2132555225, rs2132556766, rs1810518393 View all (723 more)	RCV003820311 RCV002513840 RCV000810563 RCV003606012 RCV001336405 RCV001353221 RCV001376194 RCV001376541 RCV001378898 RCV001377612 RCV001379285 RCV001378554 RCV001383292 RCV001383186 RCV001389984 RCV001388912 RCV001382738 RCV001389580 RCV001384101 RCV001388880 RCV001386923 RCV001387057 RCV001389060 RCV001387805 RCV001389220 RCV001389141 RCV001390727 RCV001388506 RCV001382926 RCV001380887 RCV001386045 RCV001380191 RCV001383462 RCV001380096 RCV001386470 RCV001386413 RCV001381105 RCV001390904 RCV001384640 RCV001389368 RCV001381583 RCV001383251 RCV001386140 RCV001389508 RCV001380799 RCV001526591 RCV001588012 RCV001588016 RCV001588017 RCV001588018 RCV001785125 RCV001784016 RCV001784017 RCV001784018 RCV001806373 RCV001808010 RCV002004524 RCV002039169 RCV001895910 RCV001974899 RCV002046127 RCV001967887 RCV001967799 RCV000119263 RCV000119264 RCV001894062 RCV001998707 RCV001905347 RCV001985331 RCV001908765 RCV001888298 RCV001888319 RCV001908640 RCV001943717 RCV001914306 RCV001958943 RCV001926373 RCV001980262 RCV001926562 RCV002007374 RCV002007417 RCV001990824 RCV002035259 RCV001993243 RCV002035956 RCV001922533 RCV002037766 RCV002001736 RCV001922167 RCV001897608 RCV002007578 RCV002007579 RCV002007583 RCV001918125 RCV001896694 RCV001964612 RCV001942084 RCV002011629 RCV001872831 RCV001908031 RCV002011473 RCV001895535 RCV001965272 RCV001893711 RCV002037973 RCV001960524 RCV001953411 RCV001953423 RCV001946994 RCV002005656 RCV002050892 RCV002044466 RCV001951162 RCV001972399 RCV001894136 RCV001946579 RCV001925111 RCV001956377 RCV001880919 RCV001909071 RCV001949369 RCV001864782 RCV001961556 RCV001972506 RCV002005928 RCV001935255 RCV001951357 RCV001959027 RCV001958694 RCV002030666 RCV001881028 RCV001881093 RCV001951506 RCV001952776 RCV001946233 RCV001917146 RCV002021487 RCV001922295 RCV002038491 RCV002052219 RCV002255239 RCV002271984 RCV002277755 RCV002286511 RCV002286512 RCV000178693 RCV002308648 RCV002306554 RCV002306566 RCV002306601 RCV002306651 RCV002306694 RCV002306784 RCV002306787 RCV002306796 RCV002309717 RCV002309748 RCV002309842 RCV002309847 RCV002310048 RCV002308009 RCV002308016 RCV002308038 RCV002308122 RCV002308376 RCV002309110 RCV002309195 RCV002309339 RCV002307238 RCV002307247 RCV002310183 RCV002310258 RCV002310346 RCV002310564 RCV002308416 RCV002308453 RCV000002952 RCV000002953 RCV000002954 RCV000002956 RCV000002957 RCV000002958 RCV000002959 RCV000002960 RCV002471665 RCV000169235 RCV000169612 RCV000169093 RCV003062172 RCV000169632 RCV003076356 RCV003068500 RCV003077899 RCV003075898 RCV003073298 RCV003070412 RCV003087771 RCV003084249 RCV002581736 RCV002574473 RCV002591987 RCV002620331 RCV002633068 RCV003108325 RCV002512496 RCV002625685 RCV002604309 RCV002617860 RCV002605268 RCV002626691 RCV002720097 RCV002726024 RCV002701466 RCV002755398 RCV002760153 RCV002736327 RCV002736038 RCV002746326 RCV002780194 RCV002780826 RCV002820232 RCV000409691 RCV002819444 RCV002833811 RCV002833765 RCV002834382 RCV000192341 RCV002861822 RCV002830168 RCV002863818 RCV002898773 RCV002885047 RCV002862908 RCV002894074 RCV002889324 RCV002871847 RCV002881942 RCV002899131 RCV002895790 RCV002890101 RCV002890106 RCV002885205 RCV002938464 RCV002948661 RCV002943583 RCV002949280 RCV002967415 RCV002957943 RCV003009086 RCV002999762 RCV002999802 RCV003013442 RCV003014126 RCV003021671 RCV003022992 RCV003011661 RCV002991346 RCV002991723 RCV003029617 RCV003034974 RCV003033763 RCV003045803 RCV003023446 RCV003029835 RCV003047508 RCV003047604 RCV003027920 RCV003057173 RCV003049866 RCV003059619 RCV003041013 RCV003048024 RCV003045111 RCV001388802 RCV000668646 RCV000211543 RCV003134747 RCV003226827 RCV000824874 RCV001387318 RCV000410131 RCV000673370 RCV000673645 RCV005230222 RCV000411379 RCV000679864 RCV000409967 RCV005608946 RCV004334092 RCV003328532 RCV005608960 RCV003486514 RCV003498183 RCV003498814 RCV003498850 RCV003498854 RCV003498067 RCV003498133 RCV003498198 RCV003498284 RCV003498831 RCV003498895 RCV003499003 RCV003499053 RCV003498936 RCV003499229 RCV003498924 RCV003498930 RCV003499223 RCV003499113 RCV003499114 RCV003499265 RCV003499790 RCV003499751 RCV003499802 RCV003497404 RCV003499892 RCV003497708 RCV003497420 RCV003497642 RCV003497751 RCV003498297 RCV003498339 RCV003498586 RCV003498591 RCV003498488 RCV003498362 RCV003498367 RCV003498483 RCV003497799 RCV003498462 RCV003498514 RCV003498602 RCV003498715 RCV003499439 RCV003498691 RCV003498703 RCV003498760 RCV003499365 RCV003498665 RCV003498672 RCV003499325 RCV003499389 RCV003499443 RCV003605973 RCV003605893 RCV003605951 RCV003605911 RCV003606036 RCV003605995 RCV003606058 RCV003606163 RCV003606197 RCV003606086 RCV003606161 RCV003606230 RCV003606205 RCV003606222 RCV003606201 RCV003606218 RCV003606246 RCV003606330 RCV003606412 RCV003606269 RCV003606351 RCV003606313 RCV003606462 RCV003605107 RCV003606480 RCV003606561 RCV003606578 RCV003605122 RCV003606469 RCV003605214 RCV003605188 RCV003605205 RCV003605307 RCV003605223 RCV003605353 RCV003605396 RCV003605522 RCV003605370 RCV003605392 RCV003605394 RCV003605395 RCV003605482 RCV003605534 RCV003605365 RCV003605417 RCV003605475 RCV003605477 RCV003605472 RCV003605503 RCV003605527 RCV003605543 RCV003605589 RCV003606685 RCV003606827 RCV003606829 RCV003606949 RCV003606989 RCV003606960 RCV003822498 RCV003823258 RCV003838953 RCV003834193 RCV003855877 RCV003865819 RCV003871336 RCV003870579 RCV003876779 RCV003876783 RCV003881663 RCV005610657 RCV003989174 RCV004595118 RCV000408615 RCV000410983 RCV000412317 RCV000411018 RCV000411090 RCV000409911 RCV000410784 RCV000412175 RCV000409173 RCV000412362 RCV000412298 RCV000409371 RCV000409808 RCV000411115 RCV000410722 RCV000410104 RCV000409989 RCV000410894 RCV000411611 RCV000410018 RCV000410992 RCV000409159 RCV000410176 RCV000410238 RCV000409348 RCV000410674 RCV000410026 RCV000412272 RCV000411361 RCV000410632 RCV000412236 RCV000409835 RCV000411803 RCV000410909 RCV000411092 RCV000410561 RCV000412237 RCV000412148 RCV000411806 RCV000409856 RCV000412351 RCV000409821 RCV000411146 RCV000410123 RCV000410423 RCV000409926 RCV000410476 RCV000409484 RCV000410167 RCV000412055 RCV000409592 RCV000412199 RCV000411201 RCV000410741 RCV000411468 RCV000409532 RCV000412233 RCV000411927 RCV000411971 RCV000411617 RCV000412278 RCV000412084 RCV000409355 RCV000411812 RCV000409975 RCV000411447 RCV000410386 RCV000410769 RCV000411667 RCV000412443 RCV000412099 RCV000411609 RCV000411793 RCV000410755 RCV000409909 RCV000412009 RCV000410502 RCV000410701 RCV000412032 RCV000410555 RCV005252879 RCV001196894 RCV000558120 RCV003984837 RCV003225943 RCV000668997 RCV000503724 RCV000502057 RCV001385366 RCV003133304 RCV001380881 RCV002528243 RCV000668388 RCV000533932 RCV000552220 RCV000540679 RCV000537107 RCV000673966 RCV005091457 RCV000592363 RCV000984320 RCV001199914 RCV000661927 RCV000662044 RCV000673879 RCV000673316 RCV000671950 RCV000671443 RCV000672189 RCV000666966 RCV000673575 RCV000668681 RCV000667542 RCV000665769 RCV000671313 RCV000668082 RCV000667165 RCV000666709 RCV000670574 RCV000667859 RCV000666147 RCV000665043 RCV000674975 RCV000665038 RCV000669981 RCV000670082 RCV000669974 RCV000667331 RCV000669548 RCV000672548 RCV000673891 RCV000668515 RCV000666929 RCV000671634 RCV000672443 RCV000667390 RCV000674736 RCV000666527 RCV000672503 RCV000673228 RCV000669506 RCV000668434 RCV000668183 RCV000667350 RCV000671457 RCV000669642 RCV000673444 RCV000667467 RCV000673941 RCV000673052 RCV000666116 RCV000672425 RCV000664918 RCV000669894 RCV000673047 RCV000671867 RCV000670740 RCV000672369 RCV000670508 RCV000665552 RCV000673846 RCV000668378 RCV000670719 RCV000671779 RCV000671151 RCV000666194 RCV000673396 RCV000667131 RCV000669010 RCV000673245 RCV000668051 RCV000671788 RCV000674026 RCV000668599 RCV000670730 RCV000666192 RCV000673781 RCV000665589 RCV000664745 RCV000668268 RCV000666273 RCV000670950 RCV000667392 RCV000667574 RCV000669807 RCV000669006 RCV000671359 RCV000669791 RCV000665744 RCV000665658 RCV000673279 RCV000677709 RCV000677711 RCV000677713 RCV000677714 RCV000677712 RCV000681513 RCV000698485 RCV000707693 RCV000685890 RCV000688450 RCV001825417 RCV000714846 RCV002533847 RCV003768283 RCV000761345 RCV000785964 RCV000790905 RCV000796437 RCV000817509 RCV000809091 RCV000799800 RCV000816694 RCV000815525 RCV000820837 RCV000795917 RCV000798963 RCV000792458 RCV000050041 RCV000050042 RCV000050043 RCV000050044 RCV000050045 RCV000050046 RCV000050047 RCV000050048 RCV000050049 RCV000050050 RCV000050051 RCV000050052 RCV000050053 RCV000050054 RCV000050056 RCV000050057 RCV000050058 RCV000050059 RCV000050060 RCV000050061 RCV000050062 RCV000050063 RCV000050064 RCV000050065 RCV000050066 RCV000050067 RCV000050068 RCV000050069 RCV000050070 RCV000050071 RCV000050072 RCV000050073 RCV000050074 RCV000050075 RCV000050076 RCV000050077 RCV000050078 RCV000050080 RCV000050081 RCV000050082 RCV000050083 RCV000050084 RCV000050085 RCV000050086 RCV000050087 RCV000050088 RCV000050089 RCV000050090 RCV000050091 RCV000050092 RCV000050093 RCV000050094 RCV000050095 RCV000050096 RCV000050097 RCV000050099 RCV000050100 RCV000050101 RCV000050102 RCV000050103 RCV000050104 RCV000050105 RCV000050106 RCV000050107 RCV000050108 RCV000050109 RCV000050110 RCV000050111 RCV000050112 RCV000050113 RCV000050114 RCV000050115 RCV000050204 RCV000984495 RCV000410642 RCV000684837 RCV001379171 RCV000169432 RCV000984235 RCV000988100 RCV000988104 RCV000991391 RCV001002697 RCV001002695 RCV001002696 RCV001003292 RCV001862729 RCV001860546 RCV001004101 RCV005093041 RCV001827171 RCV001276180 RCV001068966 RCV001048301 RCV001064214 RCV001052238 RCV001050326 RCV001059758 RCV001047393 RCV001071344 RCV001067905 RCV001039389 RCV001068786 RCV001035639 RCV002557468 RCV001172317 RCV001174532 RCV001224172 RCV001215317 RCV001222963 RCV001213996 RCV001213997 RCV001208465 RCV001213869 RCV001207048 RCV001223534 RCV001235610 RCV001230538 RCV001230984 RCV001238125 RCV001225984 RCV001232013 RCV001235561 RCV001245977 RCV001230895 RCV001239273 RCV001251151 RCV001252627 RCV001252628 RCV001255790 RCV001255754 RCV001255770 RCV003148962 RCV001880131 RCV002537921 RCV001780242
Colon adenocarcinoma	Likely pathogenic; Pathogenic	rs1563908020	RCV005901751
Familial cancer of breast	Pathogenic	rs386834119	RCV005890364
Global developmental delay	Pathogenic; Likely pathogenic	rs1469729130, rs1364947213	RCV001003972 RCV001003974
High myopia	Pathogenic; Likely pathogenic	rs1469729130, rs1364947213	RCV001003972 RCV001003974
Lung cancer	Likely pathogenic	rs766409208	RCV005936601
Melanoma	Likely pathogenic; Pathogenic	rs372327659	RCV005901457
Microcephaly	Pathogenic	rs1810830776, rs1815354949	RCV001252692 RCV001252693
Ovarian cancer	Likely pathogenic	rs1057516840	RCV005900635
Ovarian serous cystadenocarcinoma	Pathogenic	rs587777382, rs867112705	RCV005889451 RCV005901474
Retinal dystrophy	Pathogenic; Likely pathogenic	rs1469729130, rs1364947213	RCV001003972 RCV001003974
Retinitis pigmentosa	Pathogenic	rs1205613982, rs1830219226, rs777019428	RCV001199600 RCV001199597 RCV001199599
See cases	Likely pathogenic; Pathogenic	rs1347701279	RCV002252202
Uterine corpus endometrial carcinoma	Likely pathogenic; Pathogenic	rs755996065	RCV005902087
VPS13B-related disorder	Likely pathogenic; Pathogenic	rs140353201, rs141703746, rs180177329, rs786204533, rs386834067, rs942483537, rs2490161693, rs886041184, rs886041323, rs146960401, rs1816425634, rs1825747036, rs2492006351, rs765998879, rs145741622 View all (12 more)	RCV003894940 RCV003416298 RCV004742207 RCV004742302 RCV004742304 RCV004744602 RCV004744440 RCV004742354 RCV004742355 RCV003409391 RCV003412348 RCV004723459 RCV003899073 RCV004742409 RCV004742411 RCV003392419 RCV003420178 RCV003411582 RCV004742560 RCV004742652 RCV004742239 RCV004742240 RCV003407433 RCV003415820 RCV004742241 RCV004743249 RCV004743262 RCV003411960

Show/Hide Unknown Diseases (21)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs863223386, rs1814275295	-
Adrenocortical carcinoma, hereditary	Conflicting classifications of pathogenicity	rs143205296	RCV005889733
Cervical cancer	Benign; Likely benign	rs199704158, rs61753726, rs112780006	RCV005923152 RCV005901317 RCV005900087
Cholangiocarcinoma	Benign; Likely benign	rs199704158, rs74485751	RCV005923154 RCV005901488
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign; Likely benign; Conflicting classifications of pathogenicity	rs61759485, rs369117364	RCV005886612 RCV005912747
Clear cell carcinoma of kidney	Benign; Likely benign	rs61759485	RCV005886608
Colorectal cancer	Uncertain significance	rs768721417	RCV005911277
Early onset severe obesity	Uncertain significance; Conflicting classifications of pathogenicity	rs779751988, rs73273219	RCV006437038 RCV006436428
Gastric cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	rs61759485, rs143205296, rs189516672, rs780598553	RCV005886609 RCV005889734 RCV005899671 RCV005912162
Hepatocellular carcinoma	Benign; Uncertain significance	rs61753726, rs558911841	RCV005901315 RCV005909145
Intellectual disability	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs142476821, rs1810086193, rs140601319, rs200327756, rs149531438, rs138565077, rs760792770, rs377348581	RCV005625283 RCV005626520 RCV001252626 RCV005625375 RCV005625569 RCV001252625 RCV005622002 RCV005626352
Malignant tumor of esophagus	Benign; Likely benign	rs61759485	RCV005886606
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	rs28940272	RCV005887227
Neutropenia, severe congenital, 1, autosomal dominant	Benign; Likely benign	rs139640224	RCV002272060
Nonpapillary renal cell carcinoma	Benign; Likely benign	rs61759485, rs61753726	RCV005886607 RCV005901316
Papillary renal cell carcinoma type 1	Benign	rs74485751	RCV005901485
Pituitary stalk interruption syndrome	Uncertain significance	rs1821585422	RCV001257289
Sarcoma	Likely benign; Benign	rs141308505, rs199704158	RCV005916406 RCV005923153
Thymoma	Benign	rs61753726, rs74485751	RCV005901319 RCV005901487
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity; Benign	rs142248228, rs61753726	RCV005889947 RCV005901320
Uterine carcinosarcoma	Benign	rs61753726	RCV005901318

Show/Hide Text Mining Associations (37)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
16p11.2 Deletion Syndrome	Associate	27832746
Agenesis of Corpus Callosum	Associate	33270637
Akesson syndrome	Associate	19190672
Autism Spectrum Disorder	Associate	32081867, 36153334
Autistic Disorder	Associate	25502226, 26104215, 35690661, 36153334
Brain Diseases	Associate	36780047
Cerebral Infarction	Associate	32653974
Channelopathies	Associate	36780047
Cohen syndrome	Associate	12730828, 15154116, 16648375, 19190672, 20461111, 20656880, 21865173, 23188044, 25502226, 26104215, 27832746, 28631888, 30925032, 31580008, 31752730 View all (9 more)
Depression Postpartum	Associate	20656880
Developmental Disabilities	Associate	25502226, 36073289, 37090188
Dubowitz syndrome	Associate	33098347
Epileptic Encephalopathy Early Infantile 3	Associate	36780047
Facial Neoplasms	Associate	27832746
Genetic Diseases Inborn	Associate	31752730
Growth Disorders	Associate	35690661
Hairy palms and soles	Associate	31752730
Hearing Loss Sensorineural	Associate	19190672
Intellectual Disability	Associate	27832746, 36073289
Intracranial Arteriosclerosis	Associate	32653974
Joint Instability	Associate	27832746
Lymphoma	Associate	33883344
Lymphoma B Cell	Associate	33883344
Microcephaly	Associate	27832746, 36073289
Neoplasm Metastasis	Associate	25863124
Neoplasms	Associate	25863124
Neuroacanthocytosis	Associate	31876103
Neutropenia	Associate	20656880, 27832746, 40358701
Parkinson Disease Secondary	Associate	31876103
Primary Immunodeficiency Diseases	Associate	35690661
Retinal Diseases	Associate	30925032, 35690661
Retinal Dystrophies	Associate	27832746
Retinitis Pigmentosa	Associate	30925032, 31580008, 33946315
Sjogren Larsson Syndrome	Associate	30925032
Sleep Wake Disorders	Associate	37090188
Small Cell Lung Carcinoma	Associate	25863124
Vision Disorders	Associate	23188044

VPS13B (vacuolar protein sorting 13 homolog B)