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ABCC6 (ATP binding cassette subfamily C member 6)

Gene

368

ATP binding cassette subfamily C member 6

ABCC6

ABC34, ARA, EST349056, GACI2, MLP1, MOAT-E, MOATE, MRP6, PXE, PXE1, URG7

16p13.11

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). The encoded protein, a member of the MRP subfamily, is involved in multi-drug resistance. Mutations in this gene cause pseudoxanthoma elasticum. Alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq, Jul 2008]

Show/Hide all(321)

SNP ID	Visualize variation	Clinical significance	Consequence
rs2606921	G>A	Pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs2856597	C>T	Pathogenic	Missense variant, 5 prime UTR variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs4780605	G>A	Likely-benign, pathogenic	Synonymous variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs28939701	G>A	Pathogenic	Genic downstream transcript variant, missense variant, intron variant, coding sequence variant, non coding transcript variant
rs28939702	G>A,T	Pathogenic	Genic downstream transcript variant, missense variant, downstream transcript variant, coding sequence variant, non coding transcript variant
rs41278172	G>A	Benign, pathogenic	Genic downstream transcript variant, intron variant
rs41278174	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs55778939	C>A,T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs56877937	C>A,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs57499803	G>A,T	Benign, pathogenic	Genic downstream transcript variant, missense variant, downstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant
rs57794451	C>A,T	Pathogenic	Genic downstream transcript variant, missense variant, intron variant, coding sequence variant, non coding transcript variant
rs58668703	C>T	Benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic downstream transcript variant, synonymous variant, coding sequence variant
rs58694313	C>T	Benign, pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs58695352	C>A,T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, missense variant, downstream transcript variant, coding sequence variant, non coding transcript variant
rs59002125	G>A	Pathogenic, likely-benign	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs59157279	C>T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs59206042	G>A,T	Pathogenic	Genic downstream transcript variant, missense variant, 3 prime UTR variant, coding sequence variant, non coding transcript variant
rs59461468	C>G,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic downstream transcript variant, 3 prime UTR variant
rs59513011	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs60791294	C>G,T	Pathogenic	Genic downstream transcript variant, missense variant, intron variant, coding sequence variant, non coding transcript variant
rs60975032	G>A,T	Benign, pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, synonymous variant, non coding transcript variant
rs61340537	G>T	Pathogenic, likely-benign	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs63749794	G>A	Pathogenic	Genic downstream transcript variant, missense variant, intron variant, coding sequence variant, non coding transcript variant
rs63749796	C>G	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs63749807	C>A	Pathogenic	Genic downstream transcript variant, missense variant, intron variant, coding sequence variant, non coding transcript variant
rs63749823	C>T	Pathogenic	Genic downstream transcript variant, missense variant, downstream transcript variant, coding sequence variant, non coding transcript variant
rs63749856	C>T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs63749992	A>G	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs63749998	A>G	Pathogenic	Genic downstream transcript variant, missense variant, intron variant, coding sequence variant, non coding transcript variant
rs63750018	C>G	Pathogenic	Genic downstream transcript variant, missense variant, downstream transcript variant, coding sequence variant, non coding transcript variant
rs63750125	G>T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs63750135	G>A,T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs63750146	C>T	Likely-pathogenic	Genic downstream transcript variant, missense variant, intron variant, coding sequence variant, non coding transcript variant
rs63750209	C>T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs63750235	C>T	Pathogenic	Genic downstream transcript variant, downstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant
rs63750273	C>T	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs63750295	A>G	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs63750402	G>A,C	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs63750410	C>G,T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs63750414	A>G,T	Pathogenic	Genic downstream transcript variant, missense variant, downstream transcript variant, coding sequence variant, non coding transcript variant
rs63750427	C>G,T	Pathogenic	Genic downstream transcript variant, missense variant, intron variant, coding sequence variant, non coding transcript variant
rs63750446	C>T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs63750457	C>T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, missense variant, intron variant, coding sequence variant, non coding transcript variant
rs63750459	G>A	Pathogenic, likely-pathogenic	Genic downstream transcript variant, missense variant, intron variant, coding sequence variant, non coding transcript variant
rs63750473	C>G	Pathogenic, likely-pathogenic	Genic downstream transcript variant, missense variant, intron variant, coding sequence variant, non coding transcript variant
rs63750494	G>A	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs63750607	C>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, synonymous variant, non coding transcript variant
rs63750608	A>G	Pathogenic	Genic downstream transcript variant, missense variant, downstream transcript variant, coding sequence variant, non coding transcript variant
rs63750622	C>A,G,T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, missense variant, downstream transcript variant, coding sequence variant, non coding transcript variant
rs63750625	C>T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs63750700	G>A,T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, synonymous variant, non coding transcript variant
rs63750758	C>T	Pathogenic	Genic downstream transcript variant, missense variant, intron variant, coding sequence variant, non coding transcript variant
rs63750759	G>A,T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, synonymous variant, non coding transcript variant
rs63750763	G>A,C	Pathogenic	Non coding transcript variant, genic downstream transcript variant, synonymous variant, coding sequence variant
rs63750798	C>A,G,T	Pathogenic	Genic downstream transcript variant, missense variant, downstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant
rs63750874	C>A,T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs63750987	G>A,C	Pathogenic	Genic downstream transcript variant, missense variant, intron variant, coding sequence variant, non coding transcript variant
rs63750992	C>T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs63751001	C>T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs63751086	C>T	Uncertain-significance, pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs63751111	C>G,T	Pathogenic	Genic downstream transcript variant, missense variant, downstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant
rs63751112	G>A	Pathogenic	Genic downstream transcript variant, missense variant, downstream transcript variant, coding sequence variant, non coding transcript variant
rs63751215	G>A	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs63751241	C>T	Pathogenic	Genic downstream transcript variant, missense variant, downstream transcript variant, coding sequence variant, non coding transcript variant
rs63751262	C>G,T	Pathogenic, uncertain-significance	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs63751279	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs63751318	A>G	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs63751325	C>A,T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs66492417	G>T	Pathogenic	Genic downstream transcript variant, intron variant, stop gained, coding sequence variant, non coding transcript variant
rs66616070	G>A,C	Pathogenic	Genic downstream transcript variant, missense variant, stop gained, coding sequence variant, non coding transcript variant
rs66864704	A>G	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs66913554	G>A	Pathogenic	Genic downstream transcript variant, stop gained, downstream transcript variant, coding sequence variant, non coding transcript variant
rs67470842	A>G	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs67561842	C>A,G,T	Pathogenic	Genic downstream transcript variant, missense variant, intron variant, coding sequence variant, non coding transcript variant
rs67791546	C>-	Pathogenic	Genic downstream transcript variant, frameshift variant, downstream transcript variant, coding sequence variant, non coding transcript variant
rs67867306	T>-	Pathogenic, likely-benign	Genic downstream transcript variant, missense variant, frameshift variant, intron variant, coding sequence variant, non coding transcript variant
rs67996819	C>G	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs72547524	G>A	Pathogenic, uncertain-significance	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs72650698	G>A	Pathogenic	Non coding transcript variant, genic downstream transcript variant, stop gained, coding sequence variant
rs72650699	G>A	Pathogenic	Non coding transcript variant, genic downstream transcript variant, stop gained, coding sequence variant
rs72650700	G>A,T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, synonymous variant, non coding transcript variant
rs72650701	C>T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, stop gained, coding sequence variant
rs72650702	G>T	Pathogenic	Genic downstream transcript variant, intron variant, stop gained, coding sequence variant, non coding transcript variant
rs72653703	G>A	Pathogenic	Genic downstream transcript variant, intron variant, stop gained, coding sequence variant, non coding transcript variant
rs72653704	G>C,T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, stop gained, coding sequence variant
rs72653705	G>A	Pathogenic	Non coding transcript variant, genic downstream transcript variant, stop gained, coding sequence variant
rs72653706	G>A	Pathogenic	Genic downstream transcript variant, intron variant, stop gained, coding sequence variant, non coding transcript variant
rs72653743	G>A	Pathogenic	Genic downstream transcript variant, intron variant, stop gained, coding sequence variant, non coding transcript variant
rs72653744	G>A	Pathogenic	Genic downstream transcript variant, intron variant, stop gained, coding sequence variant, non coding transcript variant
rs72653745	C>T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, stop gained, coding sequence variant
rs72653746	G>A	Pathogenic	Non coding transcript variant, genic downstream transcript variant, stop gained, coding sequence variant
rs72653747	A>C	Pathogenic	Non coding transcript variant, genic downstream transcript variant, stop gained, coding sequence variant
rs72653748	C>T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, stop gained, coding sequence variant
rs72653749	G>A	Pathogenic	Non coding transcript variant, genic downstream transcript variant, stop gained, coding sequence variant
rs72653750	C>T	Pathogenic	Genic downstream transcript variant, stop gained, downstream transcript variant, coding sequence variant, non coding transcript variant
rs72653751	T>A	Pathogenic	Non coding transcript variant, genic downstream transcript variant, stop gained, coding sequence variant
rs72653752	C>G	Pathogenic	Missense variant, upstream transcript variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs72653753	C>T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs72653758	A>C	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs72653759	G>A,C	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs72653760	T>C	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs72653761	G>A	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs72653762	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs72653763	C>A,G	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs72653764	T>C	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs72653765	A>G	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs72653766	A>C,G	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs72653767	A>T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs72653768	C>T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs72653769	A>T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs72653770	G>T	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs72653771	T>A	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs72653772	C>T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs72653773	A>G	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs72653774	A>G	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs72653775	A>G	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs72653776	G>A	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs72653777	G>A	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs72653779	T>C	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs72653780	C>A,T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs72653781	C>A	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs72653782	A>G	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs72653783	T>G	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs72653784	C>A,T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, synonymous variant, non coding transcript variant
rs72653785	A>G	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs72653786	A>G,T	Pathogenic	Genic downstream transcript variant, missense variant, intron variant, coding sequence variant, non coding transcript variant
rs72653787	C>T	Pathogenic	Genic downstream transcript variant, missense variant, intron variant, coding sequence variant, non coding transcript variant
rs72653788	G>A	Likely-pathogenic	Genic downstream transcript variant, missense variant, intron variant, coding sequence variant, non coding transcript variant
rs72653789	G>T	Pathogenic	Genic downstream transcript variant, missense variant, intron variant, coding sequence variant, non coding transcript variant
rs72653790	C>T	Pathogenic	Genic downstream transcript variant, missense variant, intron variant, coding sequence variant, non coding transcript variant
rs72653791	G>A,T	Pathogenic	Genic downstream transcript variant, missense variant, intron variant, coding sequence variant, non coding transcript variant
rs72653792	C>A,T	Pathogenic, uncertain-significance	Genic downstream transcript variant, missense variant, intron variant, coding sequence variant, non coding transcript variant
rs72653793	G>A,C	Pathogenic	Genic downstream transcript variant, missense variant, intron variant, coding sequence variant, non coding transcript variant
rs72653794	C>T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, missense variant, intron variant, coding sequence variant, non coding transcript variant
rs72653795	C>T	Uncertain-significance, pathogenic	Genic downstream transcript variant, missense variant, intron variant, coding sequence variant, non coding transcript variant
rs72653796	G>A,C	Pathogenic	Genic downstream transcript variant, missense variant, intron variant, coding sequence variant, non coding transcript variant
rs72653797	C>G	Pathogenic	Genic downstream transcript variant, missense variant, intron variant, coding sequence variant, non coding transcript variant
rs72653798	A>G	Pathogenic	Genic downstream transcript variant, missense variant, intron variant, coding sequence variant, non coding transcript variant
rs72653799	A>G	Pathogenic	Genic downstream transcript variant, missense variant, intron variant, coding sequence variant, non coding transcript variant
rs72653800	C>A,T	Pathogenic	Genic downstream transcript variant, missense variant, stop gained, coding sequence variant, synonymous variant, non coding transcript variant
rs72653801	G>A,T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs72657689	C>T	Uncertain-significance, pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs72657690	A>C	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs72657691	C>G,T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs72657692	C>G,T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs72657693	A>C	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs72657694	G>A,T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, synonymous variant, non coding transcript variant
rs72657695	A>C,G	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs72657696	C>T	Pathogenic	Missense variant, upstream transcript variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs72657699	T>C	Benign, pathogenic, likely-benign	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs72657700	A>T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs72657701	C>G	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs72657702	C>T	Pathogenic	Upstream transcript variant, splice acceptor variant, genic upstream transcript variant
rs72664203	C>G	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs72664204	AC>-	Pathogenic	Genic downstream transcript variant, splice donor variant, intron variant
rs72664205	A>-	Pathogenic	Genic downstream transcript variant, splice donor variant
rs72664207	A>C	Pathogenic, likely-pathogenic	Genic downstream transcript variant, intron variant
rs72664208	C>T	Likely-pathogenic	Genic downstream transcript variant, intron variant
rs72664209	C>A	Pathogenic	Genic downstream transcript variant, splice donor variant, downstream transcript variant
rs72664210	C>T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs72664211	ACCT>-	Pathogenic	Genic downstream transcript variant, splice donor variant, intron variant, coding sequence variant, non coding transcript variant
rs72664212	G>T	Pathogenic	Genic downstream transcript variant, intron variant
rs72664213	C>T	Pathogenic	Genic downstream transcript variant, intron variant
rs72664214	C>G,T	Pathogenic-likely-pathogenic	Genic downstream transcript variant, intron variant
rs72664215	G>A,C	Pathogenic	Genic downstream transcript variant, intron variant
rs72664216	->A	Pathogenic	Non coding transcript variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs72664217	->C	Pathogenic	Non coding transcript variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs72664218	->G	Pathogenic	Non coding transcript variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs72664219	->G	Pathogenic	Non coding transcript variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs72664220	->G	Pathogenic	Non coding transcript variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs72664222	->TCTT	Pathogenic	Non coding transcript variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs72664223	T>-	Pathogenic	Frameshift variant, upstream transcript variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs72664225	ACC>-	Pathogenic	Genic downstream transcript variant, splice acceptor variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs72664226	G>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs72664227	C>-,CC	Pathogenic	Non coding transcript variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs72664229	G>-	Pathogenic	Genic downstream transcript variant, frameshift variant, intron variant, coding sequence variant, non coding transcript variant
rs72664230	AAA>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, inframe deletion, coding sequence variant
rs72664231	CAA>-	Pathogenic	Genic downstream transcript variant, intron variant, inframe deletion, coding sequence variant, non coding transcript variant
rs72664232	A>-	Pathogenic	Genic downstream transcript variant, frameshift variant, intron variant, coding sequence variant, non coding transcript variant
rs72664233	A>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs72664234	C>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs72664235	TCT>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, inframe deletion, coding sequence variant
rs72664236	C>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs72664237	G>-	Pathogenic	Genic downstream transcript variant, frameshift variant, downstream transcript variant, coding sequence variant, non coding transcript variant
rs72664238	T>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs72664239	C>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs72664280	T>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs72664283	T>C,G	Benign, pathogenic, likely-benign	Non coding transcript variant, genic downstream transcript variant, synonymous variant, coding sequence variant
rs72664284	A>G	Pathogenic, likely-benign	Non coding transcript variant, genic downstream transcript variant, synonymous variant, coding sequence variant
rs72664285	G>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, synonymous variant, non coding transcript variant
rs72664286	A>C,T	Pathogenic, likely-benign	Non coding transcript variant, genic downstream transcript variant, synonymous variant, coding sequence variant
rs72664287	C>T	Benign, pathogenic	Non coding transcript variant, genic downstream transcript variant, synonymous variant, coding sequence variant
rs72664288	T>G	Pathogenic	Genic downstream transcript variant, missense variant, downstream transcript variant, coding sequence variant, non coding transcript variant
rs72664289	G>A	Pathogenic	Non coding transcript variant, genic downstream transcript variant, synonymous variant, coding sequence variant
rs72664295	G>A	Pathogenic	Genic downstream transcript variant, intron variant
rs72664297	G>T	Pathogenic	Genic downstream transcript variant, intron variant
rs72664302	C>T	Pathogenic	Genic downstream transcript variant, intron variant
rs74315109	TCCGTGC>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs74315110	TAGCCCCGG>-	Pathogenic	Inframe deletion, upstream transcript variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs74315128	GGATCTTGAAGGACACGCCCTGCACAGCCAGCGGGAGCTCAGGTCGGT>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, inframe deletion, coding sequence variant
rs74315130	ACCGACAACAGCCAGCAGACAGC>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs74315139	CCACTGGCTCCCTTCTTGCCGTAGG>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs74315152	TGCGTAGAGGCAGAGG>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs78678589	G>C,T	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs111113623	AA>-	Pathogenic	Intron variant, genic downstream transcript variant
rs111113624	CT>-	Pathogenic	Intron variant, genic downstream transcript variant, splice acceptor variant
rs111113625	CT>-	Pathogenic	Genic downstream transcript variant, splice acceptor variant, intron variant, coding sequence variant, non coding transcript variant
rs114149656	C>A,T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, stop gained
rs114179357	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, synonymous variant, coding sequence variant, genic downstream transcript variant
rs114303883	C>A,T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, stop gained
rs281865557	C>A,T	Pathogenic	Synonymous variant, missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs368017088	C>A,G	Pathogenic	Missense variant, genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs368465318	C>A,T	Pathogenic	Synonymous variant, missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs369518454	C>G,T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs369806278	C>G,T	Pathogenic	Genic downstream transcript variant, intron variant
rs376518465	G>A,C,T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant, synonymous variant
rs387906352	->TTCT	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs387906353	CTGTACATGTTCTGCTGCTCAAACAGCGTTTGC>-	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, inframe deletion
rs387906859	G>T	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs387906860	->G	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs745900279	GA>-	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs746428588	G>C	Pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs747386965	G>A	Pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs749035807	C>T	Pathogenic	Genic downstream transcript variant, downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs749125777	G>A,C	Pathogenic	Synonymous variant, genic downstream transcript variant, downstream transcript variant, coding sequence variant, non coding transcript variant
rs754360599	G>A	Pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs760376992	C>T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs761433545	C>A,G,T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs765405352	TGCC>-	Pathogenic	Downstream transcript variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant
rs766105758	C>A,T	Pathogenic	Downstream transcript variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs767359198	GAAGAG>-	Pathogenic, likely-pathogenic	Inframe deletion, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs768271196	A>G	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs768570780	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, intron variant, missense variant
rs769405586	C>A,T	Pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, intron variant, coding sequence variant
rs769437554	AAG>-	Pathogenic, likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, inframe deletion, coding sequence variant
rs772050759	T>C	Pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, intron variant, coding sequence variant
rs772434460	C>G,T	Pathogenic	Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs774648925	A>G	Pathogenic	Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs775319351	C>G,T	Pathogenic	Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs776463091	A>G	Pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, intron variant, coding sequence variant
rs776513864	G>A,C	Pathogenic, uncertain-significance	Missense variant, non coding transcript variant, genic downstream transcript variant, intron variant, coding sequence variant
rs777566074	C>T	Pathogenic	Upstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant
rs778544828	G>A,C,T	Pathogenic	Upstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant
rs779018991	->A,AA	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs779408186	G>C	Pathogenic, likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs780887287	G>C	Pathogenic	Downstream transcript variant, non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs797045078	C>-	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, splice donor variant
rs879274205	T>C	Pathogenic, likely-benign	Missense variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs879956688	C>A,T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, stop gained
rs940803158	G>C	Pathogenic	Missense variant, upstream transcript variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant
rs947230593	C>T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs957828732	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs965791272	G>A,C,T	Pathogenic	Genic downstream transcript variant, intron variant
rs1002088882	C>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained, genic downstream transcript variant, non coding transcript variant
rs1006994885	C>A,G	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1030872147	G>A,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs1064793538	->A	Pathogenic	Non coding transcript variant, frameshift variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, upstream transcript variant
rs1131691865	C>A	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1192373126	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, non coding transcript variant, intron variant
rs1235912910	G>A	Pathogenic	Genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, upstream transcript variant, non coding transcript variant, missense variant
rs1264741133	C>A,T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1297171898	TCTCTCCT>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, splice donor variant
rs1311228469	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs1313008538	G>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1333662666	C>A,T	Pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant, stop gained
rs1355752953	A>G	Pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs1357894483	T>C	Pathogenic	Missense variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs1438851867	C>G,T	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1448934731	C>-	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1462269230	C>A,T	Pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs1481200467	G>C,T	Pathogenic	Coding sequence variant, non coding transcript variant, 3 prime UTR variant, genic downstream transcript variant, stop gained
rs1555506740	T>G	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1555507893	->GGAT	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1555507903	->GTCGGTATCTTAG	Pathogenic	Inframe indel, coding sequence variant, non coding transcript variant, genic downstream transcript variant, stop gained
rs1555507925	C>T	Pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1555507927	->G	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1555508604	C>T	Pathogenic	Missense variant, splice donor variant, genic downstream transcript variant, coding sequence variant
rs1555508630	->G	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1555508972	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, intron variant, genic downstream transcript variant
rs1555508993	GAGAAGGATGGATGGGAGAGGGAAGAGGAGAAGCCA>TCT	Pathogenic	Intron variant, genic downstream transcript variant
rs1555509477	C>T	Pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1555509485	G>A	Pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1555509499	A>G	Pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1555509515	A>G	Pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1555510357	A>G	Pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1555510407	A>G	Pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1555512158	C>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, intron variant, genic downstream transcript variant
rs1555512419	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, splice donor variant, intron variant, genic downstream transcript variant
rs1555512420	G>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, intron variant, genic downstream transcript variant
rs1555512484	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, intron variant, genic downstream transcript variant
rs1555513073	T>G	Pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1555513085	TCTC>-	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1555513103	T>C	Pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1555513222	C>-	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1555513581	TACTACGGGTGTCGTTCTGTACCTGTGGAGGCAGGGAGGGCTTTCCTGGGACCAGGCGAAGGTGGCACTGTGTATGGT>-	Pathogenic	Coding sequence variant, non coding transcript variant, splice donor variant, intron variant, genic downstream transcript variant
rs1555513604	G>A	Pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1555514089	T>C	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1555514439	TGGGCCTTG>C	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1555514467	AG>-	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1555514895	A>G	Pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1555514899	C>G	Pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1555514927	C>-	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1555514945	T>G	Pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1555515781	T>A	Pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1555517253	CCAGAGATAGACGAAGCAGACCACGATCCAGACGAGAGGCAGCCACAGCCCGTTGAGGTAGAGGACGCTCTCGGTCAGCCGCTGCACGTCCACGGACACCAGATTGACCACATCACCCACCGCACTGGCCTTTCTGGAGCCGCTGGACAGAGCCAGGACCTG>-	Pathogenic	Coding sequence variant, non coding transcript variant, splice donor variant, intron variant, genic downstream transcript variant, splice acceptor variant
rs1555518390	T>G	Pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1555518824	C>-	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1555518941	GAGGGGAAGGGAGAGATTAGCTCTGGGTCCCATTTTATACTCTCAGCCGCCAGCGGCAGGGCCAGGCATTAAAGGGTTGTTTTCCCAACAGTGGAGATGGGTGGGTGTGGATCTAGCCTGGCTCCCTCA>-	Pathogenic	Intron variant, genic downstream transcript variant
rs1555522983	->C	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant, 5 prime UTR variant
rs1555522997	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant, 5 prime UTR variant
rs1555523429	CATCCGGAGGTAGCCCC>-	Pathogenic	Frameshift variant, upstream transcript variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs1555523438	CGGCC>-	Pathogenic	Frameshift variant, upstream transcript variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs1555523535	G>A	Pathogenic	Upstream transcript variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, stop gained
rs1555523540	AAAGAGGACC>-	Pathogenic	Genic upstream transcript variant, intron variant, upstream transcript variant
rs1555523841	C>A	Pathogenic	Splice donor variant, genic upstream transcript variant, upstream transcript variant
rs1555523855	G>T	Pathogenic	Upstream transcript variant, coding sequence variant, non coding transcript variant, missense variant, genic upstream transcript variant, 5 prime UTR variant
rs1555523872	G>T	Pathogenic	Upstream transcript variant, coding sequence variant, non coding transcript variant, missense variant, genic upstream transcript variant, 5 prime UTR variant
rs1596578599	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs1596649191	G>-	Pathogenic	Genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant, intron variant
rs1596678798	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs1596687174	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant

Show/Hide all(108)

miRTarBase ID	miRNA	Experiments	Reference
MIRT484737	hsa-miR-4739	PAR-CLIP	23592263
MIRT484737	hsa-miR-4739	PAR-CLIP	20371350
MIRT484738	hsa-miR-4665-5p	PAR-CLIP	23592263
MIRT484738	hsa-miR-4665-5p	PAR-CLIP	20371350
MIRT484739	hsa-miR-1275	PAR-CLIP	23592263
MIRT484739	hsa-miR-1275	PAR-CLIP	20371350
MIRT484740	hsa-miR-3191-5p	PAR-CLIP	23592263
MIRT484740	hsa-miR-3191-5p	PAR-CLIP	20371350
MIRT484741	hsa-miR-4447	PAR-CLIP	23592263
MIRT484741	hsa-miR-4447	PAR-CLIP	20371350
MIRT484742	hsa-miR-4472	PAR-CLIP	23592263
MIRT484742	hsa-miR-4472	PAR-CLIP	20371350
MIRT484743	hsa-miR-6769b-5p	PAR-CLIP	23592263
MIRT484743	hsa-miR-6769b-5p	PAR-CLIP	20371350
MIRT484744	hsa-miR-6769a-5p	PAR-CLIP	23592263
MIRT484744	hsa-miR-6769a-5p	PAR-CLIP	20371350
MIRT484745	hsa-miR-92a-2-5p	PAR-CLIP	23592263
MIRT484745	hsa-miR-92a-2-5p	PAR-CLIP	20371350
MIRT484746	hsa-miR-654-5p	PAR-CLIP	23592263
MIRT484746	hsa-miR-654-5p	PAR-CLIP	20371350
MIRT484747	hsa-miR-541-3p	PAR-CLIP	23592263
MIRT484747	hsa-miR-541-3p	PAR-CLIP	20371350
MIRT484748	hsa-miR-5010-5p	PAR-CLIP	23592263
MIRT484748	hsa-miR-5010-5p	PAR-CLIP	20371350
MIRT484749	hsa-miR-4525	PAR-CLIP	23592263
MIRT484749	hsa-miR-4525	PAR-CLIP	20371350
MIRT484750	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT484750	hsa-miR-7111-5p	PAR-CLIP	20371350
MIRT484751	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT484751	hsa-miR-6870-5p	PAR-CLIP	20371350
MIRT484752	hsa-miR-5698	PAR-CLIP	23592263
MIRT484752	hsa-miR-5698	PAR-CLIP	20371350
MIRT484753	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT484753	hsa-miR-4723-5p	PAR-CLIP	20371350
MIRT484754	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT484754	hsa-miR-6825-5p	PAR-CLIP	20371350
MIRT484755	hsa-miR-625-5p	PAR-CLIP	23592263
MIRT484755	hsa-miR-625-5p	PAR-CLIP	20371350
MIRT484756	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT484756	hsa-miR-7106-5p	PAR-CLIP	20371350
MIRT484757	hsa-miR-765	PAR-CLIP	23592263
MIRT484757	hsa-miR-765	PAR-CLIP	20371350
MIRT484758	hsa-miR-6081	PAR-CLIP	23592263
MIRT484758	hsa-miR-6081	PAR-CLIP	20371350
MIRT484759	hsa-miR-7978	PAR-CLIP	23592263
MIRT484759	hsa-miR-7978	PAR-CLIP	20371350
MIRT484760	hsa-miR-4456	PAR-CLIP	23592263
MIRT484760	hsa-miR-4456	PAR-CLIP	20371350
MIRT484761	hsa-miR-548q	PAR-CLIP	23592263
MIRT484761	hsa-miR-548q	PAR-CLIP	20371350
MIRT484762	hsa-miR-4299	PAR-CLIP	23592263
MIRT484762	hsa-miR-4299	PAR-CLIP	20371350
MIRT484763	hsa-miR-6824-3p	PAR-CLIP	23592263
MIRT484763	hsa-miR-6824-3p	PAR-CLIP	20371350
MIRT484764	hsa-miR-6764-3p	PAR-CLIP	23592263
MIRT484764	hsa-miR-6764-3p	PAR-CLIP	20371350
MIRT484765	hsa-miR-330-5p	PAR-CLIP	23592263
MIRT484765	hsa-miR-330-5p	PAR-CLIP	20371350
MIRT484766	hsa-miR-326	PAR-CLIP	23592263
MIRT484766	hsa-miR-326	PAR-CLIP	20371350
MIRT484767	hsa-miR-518c-5p	PAR-CLIP	23592263
MIRT484767	hsa-miR-518c-5p	PAR-CLIP	20371350
MIRT484768	hsa-miR-761	PAR-CLIP	23592263
MIRT484768	hsa-miR-761	PAR-CLIP	20371350
MIRT484769	hsa-miR-3619-5p	PAR-CLIP	23592263
MIRT484769	hsa-miR-3619-5p	PAR-CLIP	20371350
MIRT484770	hsa-miR-214-3p	PAR-CLIP	23592263
MIRT484770	hsa-miR-214-3p	PAR-CLIP	20371350
MIRT484771	hsa-miR-6838-5p	PAR-CLIP	23592263
MIRT484771	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT484772	hsa-miR-6165	PAR-CLIP	23592263
MIRT484772	hsa-miR-6165	PAR-CLIP	20371350
MIRT484773	hsa-miR-497-5p	PAR-CLIP	23592263
MIRT484773	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT484774	hsa-miR-424-5p	PAR-CLIP	23592263
MIRT484774	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT484775	hsa-miR-195-5p	PAR-CLIP	23592263
MIRT484775	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT484776	hsa-miR-16-5p	PAR-CLIP	23592263
MIRT484776	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT484777	hsa-miR-15b-5p	PAR-CLIP	23592263
MIRT484777	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT484778	hsa-miR-15a-5p	PAR-CLIP	23592263
MIRT484778	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT612254	hsa-miR-4531	HITS-CLIP	23824327
MIRT612254	hsa-miR-4531	HITS-CLIP	23313552
MIRT612254	hsa-miR-4531	HITS-CLIP	28735896
MIRT612255	hsa-miR-5703	HITS-CLIP	23824327
MIRT612255	hsa-miR-5703	HITS-CLIP	23313552
MIRT612255	hsa-miR-5703	HITS-CLIP	28735896
MIRT612256	hsa-miR-4516	HITS-CLIP	23824327
MIRT612256	hsa-miR-4516	HITS-CLIP	23313552
MIRT612256	hsa-miR-4516	HITS-CLIP	28735896
MIRT612257	hsa-miR-4434	HITS-CLIP	23824327
MIRT612257	hsa-miR-4434	HITS-CLIP	23313552
MIRT612257	hsa-miR-4434	HITS-CLIP	28735896
MIRT612258	hsa-miR-4773	HITS-CLIP	23824327
MIRT612259	hsa-miR-8485	HITS-CLIP	23824327
MIRT612259	hsa-miR-8485	HITS-CLIP	23313552
MIRT612259	hsa-miR-8485	HITS-CLIP	28735896
MIRT616127	hsa-miR-3941	HITS-CLIP	23824327
MIRT616127	hsa-miR-3941	HITS-CLIP	23313552
MIRT616128	hsa-miR-603	HITS-CLIP	23824327
MIRT616128	hsa-miR-603	HITS-CLIP	23313552
MIRT616129	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT616129	hsa-miR-362-3p	HITS-CLIP	23313552
MIRT616130	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT616130	hsa-miR-329-3p	HITS-CLIP	23313552

Transcription factors

Show/Hide all(4)

Transcription factor	Regulation	Reference
HNF4A	Unknown	20463007
PLAG1	Activation	18850323
PLAGL1	Activation	18850323
SOX2	Activation	21531766

Show/Hide all(27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005215	Function	Transporter activity	TAS	8912525
GO:0005524	Function	ATP binding	IDA	11880368
GO:0005654	Component	Nucleoplasm	IDA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	TAS
GO:0006855	Process	Drug transmembrane transport	IEA
GO:0007601	Process	Visual perception	IEA
GO:0008559	Function	ABC-type xenobiotic transporter activity	IEA
GO:0015431	Function	ABC-type glutathione S-conjugate transporter activity	IDA	11880368
GO:0015867	Process	ATP transport	IDA	24277820, 24969777
GO:0016020	Component	Membrane	IBA	21873635
GO:0016021	Component	Integral component of membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016328	Component	Lateral plasma membrane	IEA
GO:0016887	Function	ATPase activity	IEA
GO:0030504	Function	Inorganic diphosphate transmembrane transporter activity	IEA
GO:0030505	Process	Inorganic diphosphate transport	IEA
GO:0042493	Process	Response to drug	TAS	8912525
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IBA	21873635
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IDA	11880368
GO:0042908	Process	Xenobiotic transport	IEA
GO:0055085	Process	Transmembrane transport	IBA	21873635
GO:0055085	Process	Transmembrane transport	TAS
GO:0071716	Process	Leukotriene transport	IDA	11880368
GO:0098656	Process	Anion transmembrane transport	IEA

MIM	HGNC	e!Ensembl
603234	57	ENSG00000091262

Protein

UniProt ID

O95255

Protein name

ATP-binding cassette sub-family C member 6 (EC 7.6.2.-) (EC 7.6.2.3) (Anthracycline resistance-associated protein) (Multi-specific organic anion transporter E) (MOAT-E) (Multidrug resistance-associated protein 6)

Protein function

[Isoform 1]: ATP-dependent transporter of the ATP-binding cassette (ABC) family that actively extrudes physiological compounds, and xenobiotics from cells. Mediates ATP-dependent transport of glutathione conjugates such as leukotriene-c4 (LTC4) and N-ethylmaleimide S-glutathione (NEM-GS) (in vitro), and an anionic cyclopentapeptide endothelin antagonist, BQ-123 (PubMed:11880368, PubMed:12414644). Does not appear to actively transport drugs outside the cell. Confers low levels of cellular resistance to etoposide, teniposide, anthracyclines and cisplatin (PubMed:12414644). ; [Isoform 1]: Mediates the release of nucleoside triphosphates, predominantly ATP, into the circulation, where it is rapidly converted into AMP and the mineralization inhibitor inorganic pyrophosphate (PPi) by the ecto-enzyme ectonucleotide pyrophosphatase phosphodiesterase 1 (ENPP1), therefore playing a role in PPi homeostasis. ; [Isoform 2]: Inhibits TNF-alpha-mediated apoptosis through blocking one or more caspases.

PDB

6BZR , 6BZS , 6NLO , 6P7F

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00664	ABC_membrane	311 → 581	ABC transporter transmembrane region	Family
PF00005	ABC_tran	646 → 781	ABC transporter	Domain
PF00664	ABC_membrane	947 → 1216	ABC transporter transmembrane region	Family
PF00005	ABC_tran	1282 → 1430	ABC transporter	Domain

Sequence

MAAPAEPCAGQGVWNQTEPEPAATSLLSLCFLRTAGVWVPPMYLWVLGPIYLLFIHHHGR
GYLRMSPLFKAKMVLGFALIVLCTSSVAVALWKIQQGTPEAPEFLIHPTVWLTTMSFAVF
LIHTERKKGVQSSGVLFGYWLLCFVLPATNAAQQASGAGFQSDPVRHLSTYLCLSLVVAQ
FVLSCLADQPPFFPEDPQQSNPCPETGAAFPSKATFWWVSGLVWRGYRRPLRPKDLWSLG
RENSSEELVSRLEKEWMRNRSAARRHNKAIAFKRKGGSGMKAPETEPFLRQEGSQWRPLL
KAIWQVFHSTFLLGTLSLIISDVFRFTVPKLLSLFLEFIGDPKPPAWKGYLLAVLMFLSA
CLQTLFEQQNMYRLKVLQMRLRSAITGLVYRKVLALSSGSRKASAVGDVVNLVSVDVQRL
TESVLYLNGLWLPLVWIVVCFVYLWQLLGPSALTAIAVFLSLLPLNFFISKKRNHHQEEQ
MRQKDSRARLTSSILRNSKTIKFHGWEGAFLDRVLGIRGQELGALRTSGLLFSVSLVSFQ
VSTFLVALVVFAVHTLVAENAMNAEKAFVTLTVLNILNKAQAFLPFSIHSLVQARVSFDR
LVTFLCLEEVDPGVVDSSSSGSAAGKDCITIHSATFAWSQESPPCLHRINLTVPQGCLLA
VVGPVGAGKSSLLSALLGELSKVEGFVSIEGAVAYVPQEAWVQNTSVVENVCFGQELDPP
WLERVLEACALQPDVDSFPEGIHTSIGEQGMNLSGGQKQRLSLARAVYRKAAVYLLDDPL
AALDAHVGQHVFNQVIGPGGLLQGTTRILVTHALHILPQADWIIVLANGAIAEMGSYQEL
LQRKGALMCLLDQARQPGDRGEGETEPGTSTKDPRGTSAGRRPELRRERSIKSVPEKDRT
TSEAQTEVPLDDPDRAGWPAGKDSIQYGRVKATVHLAYLRAVGTPLCLYALFLFLCQQVA
SFCRGYWLSLWADDPAVGGQQTQAALRGGIFGLLGCLQAIGLFASMAAVLLGGARASRLL
FQRLLWDVVRSPISFFERTPIGHLLNRFSKETDTVDVDIPDKLRSLLMYAFGLLEVSLVV
AVATPLATVAILPLFLLYAGFQSLYVVSSCQLRRLESASYSSVCSHMAETFQGSTVVRAF
RTQAPFVAQNNARVDESQRISFPRLVADRWLAANVELLGNGLVFAAATCAVLSKAHLSAG
LVGFSVSAALQVTQTLQWVVRNWTDLENSIVSVERMQDYAWTPKEAPWRLPTCAAQPPWP
QGGQIEFRDFGLRYRPELPLAVQGVSFKIHAGEKVGIVGRTGAGKSSLASGLLRLQEAAE
GGIWIDGVPIAHVGLHTLRSRISIIPQDPILFPGSLRMNLDLLQEHSDEAIWAALETVQL
KALVASLPGQLQYKCADRGEDLSVGQKQLLCLARALLRKTQILILDEATAAVDPGTELQM
QAMLGSWFAQCTVLLIAHRLRSVMDCARVLVMDKGQVAESGSPAQLLAQKGLFYRLAQES
GLV

Sequence length

1503

Interactions

View interactions

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