MUTYH (mutY DNA glycosylase)

Gene

• Entrez ID: 4595
• Gene name: MutY DNA glycosylase
• Gene symbol: MUTYH
• Synonyms (NCBI Gene): MYH
• Chromosome: 1
• Chromosome location: 1p34.1
• Summary: This gene encodes a DNA glycosylase involved in oxidative DNA damage repair. The enzyme excises adenine bases from the DNA backbone at sites where adenine is inappropriately paired with guanine, cytosine, or 8-oxo-7,8-dihydroguanine, a major oxidatively d

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs3219488	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs34126013	G>A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs34612342	T>C	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs35352891	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant, non coding transcript variant
rs36053993	C>A,T	Pathogenic, uncertain-significance, pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs74318065	C>G,T	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs75321043	C>T	Conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs77542170	T>C	Pathogenic-likely-pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity	Splice acceptor variant
rs79777494	G>A	Benign-likely-benign, benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, 5 prime UTR variant, coding sequence variant
rs121908380	G>A,T	Pathogenic, benign, benign-likely-benign	Synonymous variant, coding sequence variant, stop gained, 5 prime UTR variant, intron variant, non coding transcript variant
rs121908381	C>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs121908382	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121908383	T>C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs138089183	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs138775799	G>A	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant, intron variant, non coding transcript variant
rs140156029	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs140288388	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Splice donor variant
rs140342925	C>T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs141679570	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Coding sequence variant, synonymous variant, 5 prime UTR variant, non coding transcript variant, missense variant
rs143353451	C>A,G,T	Pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, missense variant
rs144079536	G>C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, non coding transcript variant, missense variant
rs144616312	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, synonymous variant, non coding transcript variant, missense variant
rs146331482	G>-,GGG	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs147718169	C>A,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs149866955	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs150792276	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs199989617	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant, synonymous variant, non coding transcript variant
rs200165598	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs200495564	G>A	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs200844166	G>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs201163858	A>C,G	Uncertain-significance, likely-pathogenic	Non coding transcript variant, initiator codon variant, missense variant, coding sequence variant, 5 prime UTR variant
rs369410616	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs369677603	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs370124822	G>A,C	Pathogenic, uncertain-significance, likely-pathogenic, pathogenic-likely-pathogenic	Intron variant, non coding transcript variant, missense variant, coding sequence variant, 5 prime UTR variant, stop gained
rs372267274	C>G,T	Pathogenic, pathogenic-likely-pathogenic	Splice acceptor variant, 5 prime UTR variant, non coding transcript variant, intron variant
rs372673338	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs374950566	G>A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs375084663	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, synonymous variant, coding sequence variant, 5 prime UTR variant, missense variant
rs375526246	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant, intron variant
rs376561094	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs376600220	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	5 prime UTR variant, intron variant, non coding transcript variant
rs376790729	C>A,T	Pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs529008617	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs558173961	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, pathogenic	Non coding transcript variant, coding sequence variant, missense variant, stop gained
rs558707786	T>C	Uncertain-significance, likely-pathogenic	5 prime UTR variant, intron variant, non coding transcript variant, coding sequence variant, missense variant
rs560905645	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Non coding transcript variant, coding sequence variant, intron variant, missense variant, 5 prime UTR variant
rs564930066	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, intron variant, missense variant, 5 prime UTR variant
rs587778536	G>-	Pathogenic, likely-pathogenic, not-provided	Coding sequence variant, frameshift variant, non coding transcript variant
rs587778541	CCT>-	Not-provided, pathogenic	Coding sequence variant, inframe deletion, non coding transcript variant
rs587780078	->CC	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs587780082	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs587780083	CT>GC	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs587780086	G>-	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, frameshift variant, non coding transcript variant
rs587780088	G>A,C	Uncertain-significance, pathogenic	Non coding transcript variant, stop gained, missense variant, coding sequence variant, 5 prime UTR variant
rs587780742	T>A	Benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs587780749	C>A,T	Likely-pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs587780751	T>G	Uncertain-significance, pathogenic	Intron variant
rs587781295	C>T	Likely-pathogenic, pathogenic	Non coding transcript variant, stop gained, intron variant, coding sequence variant, 5 prime UTR variant
rs587781337	C>A,T	Pathogenic-likely-pathogenic, likely-pathogenic	Splice donor variant
rs587781338	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs587781628	T>C	Pathogenic-likely-pathogenic, pathogenic	Splice acceptor variant
rs587781704	C>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, non coding transcript variant
rs587781864	C>T	Pathogenic-likely-pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs587782066	T>C	Uncertain-significance, likely-pathogenic	Splice acceptor variant, intron variant
rs587782228	C>A,T	Pathogenic-likely-pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs587782263	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs587782716	GC>CT	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs587782730	A>C,G	Likely-pathogenic	Splice donor variant, non coding transcript variant, 5 prime UTR variant, intron variant
rs587782885	G>A,C	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, missense variant, non coding transcript variant
rs587783057	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs730881832	A>T	Uncertain-significance, likely-pathogenic, pathogenic	Non coding transcript variant, missense variant, intron variant, coding sequence variant, 5 prime UTR variant
rs730881833	C>A,T	Uncertain-significance, likely-pathogenic, pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs730881834	G>C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs730881838	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Synonymous variant, coding sequence variant, non coding transcript variant
rs745910470	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs745921592	C>A	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs746449748	C>-	Likely-pathogenic, pathogenic	Frameshift variant, non coding transcript variant, splice acceptor variant, intron variant, coding sequence variant, 5 prime UTR variant
rs747993448	G>A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs748170941	C>G,T	Conflicting-interpretations-of-pathogenicity, pathogenic	Non coding transcript variant, stop gained, missense variant, intron variant, coding sequence variant, 5 prime UTR variant
rs750592289	G>A	Uncertain-significance, likely-pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant
rs757672024	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Intron variant
rs758377868	T>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Intron variant
rs761468459	C>-	Pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs761763725	C>G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, intron variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs761840203	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs762307622	C>A,T	Pathogenic-likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, intron variant, stop gained, non coding transcript variant, 5 prime UTR variant, missense variant
rs765123255	G>A	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs765339120	C>A,G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant, missense variant
rs766420907	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs766553845	TCCGAGCTCCCTCCT>-	Likely-pathogenic, uncertain-significance	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, splice donor variant
rs767717597	G>C,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, intron variant, 5 prime UTR variant
rs768130289	GG>-,G,GGG	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs768386527	G>A	Pathogenic, likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs769237459	G>A	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs771290019	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs773087549	G>A,T	Uncertain-significance, likely-pathogenic	Stop gained, non coding transcript variant, missense variant, coding sequence variant
rs774607582	T>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs774780021	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, intron variant, non coding transcript variant, synonymous variant, 5 prime UTR variant
rs776362892	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs776487884	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs780029247	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs780747266	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, non coding transcript variant
rs781222233	TATTTCCCCTACC>-	Pathogenic-likely-pathogenic, likely-pathogenic	Intron variant, non coding transcript variant, 5 prime UTR variant
rs786202133	G>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs786203115	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs786203161	T>C,G	Likely-pathogenic	Splice acceptor variant, non coding transcript variant, 5 prime UTR variant
rs786203213	C>-	Pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, initiator codon variant, frameshift variant, intron variant, 5 prime UTR variant, non coding transcript variant
rs863224452	T>C	Likely-pathogenic	Splice acceptor variant, intron variant, non coding transcript variant, 5 prime UTR variant
rs863224501	TCACGGACGGG>-	Pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, frameshift variant, non coding transcript variant
rs863224502	T>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs863224698	G>A,C,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Intron variant, non coding transcript variant, 5 prime UTR variant
rs864621967	AGTGCCT>-	Likely-pathogenic	Splice donor variant, coding sequence variant, intron variant, non coding transcript variant
rs864622394	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs864622450	T>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, intron variant, 5 prime UTR variant, non coding transcript variant
rs869312771	CAGAGCTCTCCTCCCTGGG>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs876659414	GA>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs876659420	C>A	Likely-pathogenic	Splice donor variant
rs876659625	G>A	Pathogenic	Coding sequence variant, stop gained, intron variant, 5 prime UTR variant, non coding transcript variant
rs876659676	T>C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs876660092	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant, synonymous variant
rs876660190	->ATCCAT	Pathogenic-likely-pathogenic, likely-pathogenic, pathogenic	Coding sequence variant, intron variant, 5 prime UTR variant, inframe insertion, non coding transcript variant
rs876660774	T>A	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs876660787	T>A	Pathogenic	Coding sequence variant, stop gained, intron variant, 5 prime UTR variant, non coding transcript variant
rs876660837	C>A	Likely-pathogenic	Splice acceptor variant
rs878854186	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs878854189	->T	Pathogenic	Coding sequence variant, frameshift variant, intron variant, 5 prime UTR variant, non coding transcript variant
rs878854191	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, non coding transcript variant, 5 prime UTR variant
rs878854193	C>A	Likely-pathogenic	Splice donor variant
rs879254257	C>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs886039606	GCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCT>-	Pathogenic	Splice acceptor variant, non coding transcript variant, intron variant, coding sequence variant
rs888691362	C>T	Pathogenic, likely-pathogenic	Stop gained, intron variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs932830392	G>A	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, stop gained
rs1057517456	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1057517457	GCCAGCCCAG>-	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs1057517459	C>T	Likely-pathogenic	Splice acceptor variant
rs1057517765	T>C,G	Likely-pathogenic, uncertain-significance, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1057520660	C>G,T	Likely-pathogenic, pathogenic	5 prime UTR variant, intron variant, splice acceptor variant, non coding transcript variant
rs1060501321	C>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1060501324	C>T	Pathogenic-likely-pathogenic, pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1060501325	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1060501333	A>C	Likely-pathogenic	Splice donor variant
rs1060501335	A>G	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1060501336	T>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs1060501346	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1060504205	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs1064793197	GTGCTA>AGCAGCTG	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1064793198	A>C	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1064795219	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1064795480	C>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1064796630	G>A	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1114167685	A>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1306473047	C>A,T	Uncertain-significance, pathogenic	Non coding transcript variant, missense variant, stop gained, coding sequence variant, 5 prime UTR variant
rs1338038953	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1383826978	T>C	Uncertain-significance, likely-pathogenic	Splice acceptor variant
rs1437789978	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1553123017	->AC	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553124893	->T	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553125075	TG>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553125100	->T	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553125243	T>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553125622	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553125677	GGCCCAGCCC>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553125766	TTC>G	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553125914	->TC	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553126848	GCTCCGAGGGAGGCAGGCACAGG>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553127514	CT>-	Likely-pathogenic	Non coding transcript variant, splice donor variant, coding sequence variant
rs1553127659	G>A,C	Uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, missense variant, stop gained
rs1553127825	A>CT	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553128663	T>C	Likely-pathogenic	Splice acceptor variant
rs1553128712	C>-	Likely-pathogenic	Non coding transcript variant, splice donor variant, coding sequence variant, 5 prime UTR variant
rs1553128813	G>A	Pathogenic-likely-pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, stop gained
rs1553129062	C>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, stop gained
rs1553129349	C>-	Likely-pathogenic	Intron variant, 5 prime UTR variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1553129521	A>C	Likely-pathogenic	Intron variant, splice donor variant, non coding transcript variant, 5 prime UTR variant
rs1553129638	G>-	Pathogenic	Intron variant, 5 prime UTR variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1553129652	->TGACCTCTGAGACC	Pathogenic	Intron variant, 5 prime UTR variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1553129676	C>-	Pathogenic	Intron variant, 5 prime UTR variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1553129862	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant, initiator codon variant, 5 prime UTR variant, non coding transcript variant, synonymous variant, coding sequence variant, missense variant
rs1553129892	C>A,T	Likely-pathogenic, uncertain-significance, pathogenic	Intron variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant, stop gained
rs1553130042	C>A,T	Likely-pathogenic	Intron variant, splice donor variant
rs1553130185	C>T	Pathogenic	Intron variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, stop gained
rs1557451154	ATACAGGT>TGGGCTGTTGG	Pathogenic	Inframe indel, coding sequence variant, non coding transcript variant
rs1557474906	C>T	Likely-pathogenic	Splice acceptor variant
rs1557474961	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs1557485553	A>G	Likely-pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant, intron variant, non coding transcript variant
rs1557486313	C>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, intron variant, non coding transcript variant
rs1557487793	C>A	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant, intron variant, non coding transcript variant
rs1570314279	->GGAG	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1570346782	CT>-	Likely-pathogenic	Splice acceptor variant
rs1570366181	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1570373385	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1570376147	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1570406302	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1570409700	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1570415363	TGTAGCGCCCCACGCCAGGCAGGAGCTG>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1570423722	C>T	Pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, stop gained
rs1570428456	GTA>TT	Pathogenic	Frameshift variant, intron variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs1570433022	G>C	Pathogenic	Intron variant, 5 prime UTR variant, stop gained, non coding transcript variant, coding sequence variant
rs1570443585	->T	Pathogenic	Frameshift variant, intron variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs1570465624	CTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCAT>G	Pathogenic	Non coding transcript variant, intron variant, splice acceptor variant, 5 prime UTR variant, initiator codon variant, coding sequence variant
rs1570467133	T>C	Pathogenic	5 prime UTR variant, initiator codon variant, missense variant, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT640343	hsa-miR-4637	HITS-CLIP	23824327
MIRT640342	hsa-miR-3664-3p	HITS-CLIP	23824327
MIRT640341	hsa-miR-1266-5p	HITS-CLIP	23824327
MIRT640340	hsa-miR-4518	HITS-CLIP	23824327
MIRT640339	hsa-miR-4320	HITS-CLIP	23824327
MIRT640343	hsa-miR-4637	HITS-CLIP	23824327
MIRT640342	hsa-miR-3664-3p	HITS-CLIP	23824327
MIRT640341	hsa-miR-1266-5p	HITS-CLIP	23824327
MIRT640340	hsa-miR-4518	HITS-CLIP	23824327
MIRT640339	hsa-miR-4320	HITS-CLIP	23824327

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000701	Function	Purine-specific mismatch base pair DNA N-glycosylase activity	IBA
GO:0000701	Function	Purine-specific mismatch base pair DNA N-glycosylase activity	IEA
GO:0000701	Function	Purine-specific mismatch base pair DNA N-glycosylase activity	IMP	20848659
GO:0003677	Function	DNA binding	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0005515	Function	Protein binding	IPI	11801590, 25416956
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	7823963
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	TAS	8682794
GO:0006284	Process	Base-excision repair	IBA
GO:0006284	Process	Base-excision repair	IEA
GO:0006298	Process	Mismatch repair	IBA
GO:0006298	Process	Mismatch repair	TAS	7823963
GO:0006950	Process	Response to stress	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0019104	Function	DNA N-glycosylase activity	IEA
GO:0019104	Function	DNA N-glycosylase activity	TAS
GO:0032357	Function	Oxidized purine DNA binding	IBA
GO:0032405	Function	MutLalpha complex binding	IDA	11801590
GO:0032406	Function	MutLbeta complex binding	IDA	11801590
GO:0032407	Function	MutSalpha complex binding	IDA	11801590
GO:0032408	Function	MutSbeta complex binding	IDA	11801590
GO:0034039	Function	8-oxo-7,8-dihydroguanine DNA N-glycosylase activity	IBA
GO:0035485	Function	Adenine/guanine mispair binding	IBA
GO:0045007	Process	Depurination	TAS
GO:0046872	Function	Metal ion binding	IEA
GO:0051536	Function	Iron-sulfur cluster binding	IEA
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IEA
GO:0060546	Process	Negative regulation of necroptotic process	IEA

Other IDs

• MIM: 604933
• HGNC: 7527
• e!Ensembl: ENSG00000132781

Protein

• UniProt ID: Q9UIF7
• Protein name: Adenine DNA glycosylase (EC 3.2.2.31) (MutY homolog) (hMYH)
• Protein function: Involved in oxidative DNA damage repair. Initiates repair of A*oxoG to C*G by removing the inappropriately paired adenine base from the DNA backbone. Possesses both adenine and 2-OH-A DNA glycosylase activities. {ECO:0000269|PubMed:10684930, ECO
• PDB: 1X51, 3N5N, 8FAY
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00730	HhH-GPD	129 → 265	HhH-GPD superfamily base excision DNA repair protein	Domain
  PF00633	HHH	193 → 223	Helix-hairpin-helix motif	Motif
  PF14815	NUDIX_4	370 → 493	NUDIX domain	Domain

• Sequence:

  MTPLVSRLSRLWAIMRKPRAAVGSGHRKQAASQEGRQKHAKNNSQAKPSACDGMIAECPG
  APAGLARQPEEVVLQASVSSYHLFRDVAEVTAFRGSLLSWYDQEKRDLPWRRRAEDEMDL
  DRRAYAVWVSEVMLQQTQVATVINYYTGWMQKWPTLQDLASASLEEVNQLWAGLGYYSRG
  RRLQEGARKVVEELGGHMPRTAETLQQLLPGVGRYTAGAIASIAFGQATGVVDGNVARVL
  CRVRAIGADPSSTLVSQQLWGLAQQLVDPARPGDFNQAAMELGATVCTPQRPLCSQCPVE
  SLCRARQRVEQEQLLASGSLSGSPDVEECAPNTGQCHLCLPPSEPWDQTLGVVNFPRKAS
  RKPPREESSATCVLEQPGALGAQILLVQRPNSGLLAGLWEFPSVTWEPSEQLQRKALLQE
  LQRWAGPLPATHLRHLGEVVHTFSHIKLTYQVYGLALEGQTPVTTVPPGARWLTQEEFHT
  AAVSTAMKKVFRVYQGQQPGTCMGSKRSQVSSPCSRKKPRMGQQVLDNFFRSHISTDAHS
  LNSAAQ

• Sequence length: 546

Pathways

KEGG:

Base excision repair

Reactome:

Recognition and association of DNA glycosylase with site containing an affected purine
Cleavage of the damaged purine
Displacement of DNA glycosylase by APEX1
Defective MUTYH substrate binding

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Associated diseases

Causal
Disease merge term	Disease name	dbSNP ID	References
Adenomatous Polyposis	Familial adenomatous polyposis 2	rs587781338, rs1553129349, rs1060501346, rs1060501336, rs786203213, rs876659414, rs587782885, rs121908380, rs1553129638, rs587780088, rs1553130042, rs773087549, rs1570346782, rs140342925, rs1553128813, rs1553129652, rs1553124893, rs765123255, rs876659676, rs587783057, rs888691362, rs761763725, rs1553130185, rs886039606, rs786203115, rs1306473047, rs768386527, rs745921592, rs1064795480, rs376561094, rs1557486313, rs121908381, rs1553125075, rs587778536, rs767402084, rs886046367, rs745910470, rs587781628, rs1553125100, rs1060501321, rs1064793197, rs748170941, rs1553125622, rs762307622, rs1437789978, rs1553136984, rs1057517459, rs34126013, rs1553127659, rs587781704, rs1553125766, rs766420907, rs1064796630, rs863224502, rs1553127514, rs730881833, rs1570376147, rs200495564, rs587780749, rs1553129892, rs1057517456, rs776487884, rs1570423722, rs587781864, rs1383826978, rs781222233, rs746449748, rs863224501, rs776362892, rs876660787, rs1570406302, rs587780751, rs768130289, rs1057517457, rs747993448, rs1570433022, rs587782730, rs558173961, rs1064795596, rs1553129521, rs876660190, rs143353451, rs1553129062, rs1057520660, rs1645371113, rs863224452, rs529008617, rs1557485553, rs1553123017, rs34612342, rs761468459, rs1553128663, rs878854186, rs730881832, rs1570415363, rs587780078, rs587781295, rs1553126848, rs1060501324, rs786203161, rs1645561773, rs587782228, rs1338038953, rs769237459, rs1553129676, rs376790729, rs864621967, rs1570443585, rs587780082, rs138775799, rs1553127825, rs1060501333, rs1060501325, rs777184451, rs1644886403, rs876659420, rs1557474906, rs36053993, rs587778541, rs370124822, rs878854193, rs1570467133, rs587781337, rs1553125677, rs1060501335, rs372267274, rs876660774, rs1557451154, rs146331482, rs1553125243, rs199989617, rs878854189, rs374950566, rs1570465624	N/A
Breast Carcinoma	breast carcinoma	rs374950566, rs140342925, rs587783057, rs587778541	N/A
gastric cancer	Gastric cancer	rs587783057, rs587780088, rs765123255, rs786203115, rs121908383, rs762307622, rs730881833, rs1570406302, rs200495564, rs34612342, rs769237459, rs587782885	N/A
colon cancer	Colon cancer	rs587781864, rs587780751	N/A
Colonic Neoplasms	Colonic neoplasm	rs781222233	N/A
colorectal cancer	Familial colorectal cancer	rs121908380, rs587783057, rs587778536, rs200495564	N/A
Endometrial carcinoma	endometrial carcinoma	rs34612342	N/A
ovarian cancer	Ovarian cancer	rs747993448	N/A

Unknown
Disease merge term	Disease name	Evidence	References	Source
Breast Cancer	Malignant tumor of breast	N/A	N/A	ClinVar
hereditary cancer	Hereditary cancer	N/A	N/A	ClinVar
Lynch syndrome	Lynch syndrome 1	N/A	N/A	ClinVar
Multiple polyposis syndrome	Familial multiple polyposis syndrome	N/A	N/A	ClinVar
neoplasm	Neoplasm	N/A	N/A	ClinVar
Retinoblastoma	retinoblastoma	N/A	N/A	ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Associate	19161591, 24377542, 34173730
Adenocarcinoma Follicular	Associate	34171097
Adenocarcinoma Of Esophagus	Associate	24377542
Adenocarcinoma of Lung	Associate	29209987
Adenoma	Associate	12606733, 12707038, 12937124, 14691304, 16521226, 16645203, 16943222, 18564191, 19531215, 20687945, 22851115, 23561487, 23599153, 29766397, 31104418, 31285513, 31527860, 32743790
Adenomatous Polyposis Coli	Associate	12606733, 16140997, 16521226, 16943222, 17122612, 17273161, 17605803, 18022921, 18091433, 18194984, 18503156, 18564191, 19531215, 19836313, 20687945, 20924072, 20939750, 21962078, 22278153, 23460355, 23561487, 23599153, 23805267, 24518836, 25604157, 25820570, 26377631, 26446593, 26511139, 28533537, 28551381, 29766397, 29915346, 30272267, 30324682, 30833417, 30852976, 30953464, 31285513, 33414168, 34140662, 34704405, 34716202, 35128723, 35238777, 35545820, 35803914
Adenomatous Polyps	Associate	15931596, 29766397
Arthritis Rheumatoid	Associate	26273655, 28173856
Attenuated familial adenomatous polyposis	Associate	18091433, 19531215, 22851115, 31285513
Breast Neoplasms	Associate	21952991, 22126480, 22297469, 25503501, 26824983, 27194394, 27630279, 30833417, 31575519, 31780696, 31811167, 32868316, 33827469, 33942220, 34866136, 34967580, 35264596, 36011273, 36315513, 37656691
Breast Neoplasms	Stimulate	35403930
Carcinogenesis	Associate	18534194, 19443904, 28634180
Carcinoma Basal Cell	Associate	30089731
Carcinoma Hepatocellular	Associate	16292541, 21171015, 37923899
Carcinoma Non Small Cell Lung	Associate	26159902
Carcinoma Pancreatic Ductal	Associate	28726808, 30833417, 32113160
Carcinoma Renal Cell	Associate	33062672, 33442023
Carcinoma Squamous Cell	Associate	19161591, 31027119, 34173730
Cardiac Output Low	Associate	21505584
Central Nervous System Diseases	Associate	35545820
Cholangiocarcinoma	Associate	16292541
Colorectal Adenomatous Polyposis Autosomal Recessive	Associate	24253443, 37856205
Colorectal Neoplasms	Associate	12707038, 12937124, 15931596, 16943222, 17029639, 17031395, 17122612, 17605803, 18022921, 18271935, 18503156, 18534194, 18564191, 18823566, 19836313, 20682701, 20687945, 20848659, 20924129, 20939750, 21171015, 21952991, 22278153, 22297469, 23322991, 23599153, 24253443, 24377541, 24444654, 24518836, 25030372, 25892863, 26202870, 26377631, 26900293, 27194394, 27799157, 27978560, 28135145, 28197815, 28445943, 28551381, 29257843, 29766397, 29915346, 29967336, 30324682, 31527860, 32312920, 32686686, 32743790, 33414168, 34244858, 34967562, 35609203, 35628513, 35668106, 35770680, 36356413, 37319387, 40156857, 40469416
Colorectal Neoplasms Hereditary Nonpolyposis	Associate	24278394, 24518836, 25204323, 26511139, 27978560, 28135145, 29967336, 30324682
Congenital Abnormalities	Associate	15931596
Desmoid disease hereditary	Associate	23561487
Disease	Associate	35443055
Duodenal Neoplasms	Associate	16943222
Endometrial Neoplasms	Associate	21171015, 27194394
Epstein Barr Virus Infections	Associate	31511648
Genetic Diseases Inborn	Associate	18503156, 37402954
Glioblastoma	Associate	35545820
Glioma	Associate	30642852, 35545820, 40469416
Graft vs Host Disease	Associate	20848659, 24310308
Hamartoma	Associate	32390703
Hamartoma Syndrome Multiple	Associate	29684080
Head and Neck Neoplasms	Associate	25916209
Hereditary Breast and Ovarian Cancer Syndrome	Associate	33326660
Idiopathic Pulmonary Fibrosis	Associate	30716719
Immunologic Deficiency Syndromes	Associate	30833417
Intestinal Polyposis	Associate	12606733, 17122612, 22851115, 23561487, 23805267, 25204323, 26446593, 31527860, 33827469, 34704405, 36356413
Kidney Failure Chronic	Associate	22720119
Kidney Neoplasms	Associate	36451132
Leukemia	Associate	35350997
Liver Diseases	Associate	16292541
Lung Neoplasms	Associate	12056405, 19161591, 23443124, 37885353
Lung Neoplasms	Stimulate	37885353
Lymphatic Metastasis	Associate	31027119
Lymphoma Non Hodgkin	Stimulate	37410378
Medulloblastoma	Associate	40469416
Meningioma	Associate	20150366
Mesothelioma	Associate	37556141
Mesothelioma Malignant	Associate	34008015, 34648949
Microsatellite Instability	Associate	17031395
Mitochondrial Diseases	Associate	30716719
Neoplasm Invasiveness	Inhibit	29257843
Neoplasm Metastasis	Associate	34967562, 37240218
Neoplasms	Associate	12056405, 12707038, 12840008, 12937124, 16292541, 17031395, 17122612, 20848659, 21171015, 21279954, 21952991, 22297469, 23322991, 23460355, 26824983, 26900293, 27194394, 27701467, 28502729, 28634180, 29146522, 29257843, 29684080, 29915346, 30620386, 30833417, 30850667, 31090900, 31104418, 32496904, 33326660, 33442023, 34008015, 34173730, 34479993, 35230882, 35545820, 35609203, 35668106, 36011273, 36833355, 37201251, 37240218, 38093606, 40156857, 40469416
Neoplasms	Stimulate	36833355
Neoplasms Neuroepithelial	Associate	40469416
Neoplastic Syndromes Hereditary	Associate	18176357, 26195711, 31575519, 32090079, 33827469, 36833355
Neurilemmoma	Associate	37402954
Neuroblastoma	Associate	34479993
Neurocytoma	Associate	30642852
Neuroendocrine Tumors	Associate	28634180, 33230973, 35417733, 39447548
Osteoarthritis	Associate	29587570
Ovarian Diseases	Associate	34173730
Ovarian Neoplasms	Associate	27194394, 33560870, 34371384, 35443055
Pancreatic Neoplasms	Associate	28199314, 32113160, 32354656, 39256447
Papillomavirus Infections	Associate	31027119
Peutz Jeghers Syndrome	Associate	32390703
Pheochromocytoma	Associate	40235160
Polycythemia Vera	Associate	33414168
Polyposis Syndrome Hereditary Mixed 1	Associate	18271935, 35803914
Polyposis Syndrome Hereditary Mixed 2	Associate	23599153
Polyps	Associate	22851115
Prostate cancer familial	Associate	36292577
Prostatic Neoplasms	Associate	27701467, 36292577
Reinjuries	Associate	32496904
Retinoblastoma	Associate	31207142
Rufous oculocutaneous albinism	Associate	31027119
Sebaceous Gland Neoplasms	Associate	24518836
Small Cell Lung Carcinoma	Associate	33504652
Stomach Neoplasms	Associate	21171015, 22126480, 27194394
Thyroid Cancer Papillary	Associate	34173730
Turcot syndrome	Associate	24518836, 27978560
Urethral Neoplasms	Associate	24518836
Urinary Bladder Neoplasms	Inhibit	27153553
Urinary Bladder Neoplasms	Associate	27153553, 27194394, 36451132
Uterine Cervical Neoplasms	Associate	31027119
Uveal melanoma	Associate	37402954
von Hippel Lindau Disease	Associate	28199314
Wilms Tumor	Associate	35230882