ABCB11

ATP binding cassette subfamily B member 11

Summary

The membrane-associated 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). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is the major canalicular bile salt export pump in man. Mutations in this gene cause a form of progressive familial intrahepatic cholestases which are a group of inherited disorders with severe cholestatic liver disease from early infancy. [provided by RefSeq, Jul 2008]

Known Variants1,287 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs13419326	2:169,771,420	A/C	upstream gene variant	—
rs563694	2:169,774,071	C/G	—	—
rs78621064	2:169,774,583	A/G	downstream gene variant	—
rs1469256614	2:169,779,462	C/G	—	uncertain significance
rs1351596156	2:169,779,492	C/G	—	uncertain significance
rs886055058	2:169,779,599	G/T	—	uncertain significance
rs886055059	2:169,779,623	G/A	—	uncertain significance
rs79130028	2:169,779,692	C/T	—	likely benign
rs496550	2:169,779,712	T/C	—	benign
rs1213193045	2:169,779,726	T/C	—	uncertain significance
rs495714	2:169,779,764	C/T	—	benign
rs560085646	2:169,779,816	C/T	—	uncertain significance
rs3732038	2:169,779,851	A/C	—	uncertain significance
rs886055060	2:169,779,880	A/T	—	uncertain significance
rs548624200	2:169,779,895	A/G	—	likely benign
rs473351	2:169,779,896	T/C	3 prime UTR variant	benign
rs886055061	2:169,779,939	C/G	—	uncertain significance
rs762157709	2:169,780,106	T/C	—	uncertain significance
rs1057521457	2:169,780,126	A/T	—	likely benign
rs201693189	2:169,780,136	C/T	—	conflicting classifications of pathogenicity
rs755385816	2:169,780,141	G/C	—	likely benign
rs376013207	2:169,780,144	G/A	—	likely benign
rs1444411962	2:169,780,147	T/A	—	likely benign
rs1691168576	2:169,780,152	T/C	—	uncertain significance
rs749146516	2:169,780,161	G/A	—	likely benign
rs2105873337	2:169,780,171	G/T	—	likely benign
rs1691170109	2:169,780,177	T/C	—	likely benign
rs371501344	2:169,780,181	T/C	—	likely benign
rs1436213702	2:169,780,183	G/T	—	likely benign
rs1691170783	2:169,780,184	G/T	—	uncertain significance
rs375782077	2:169,780,192	T/C	—	likely benign
rs1691171678	2:169,780,194	C/A	—	pathogenic
rs1282380584	2:169,780,195	T/C	—	likely benign
rs368858732	2:169,780,204	C/T	—	likely benign
rs2545223703	2:169,780,210	T/C	—	likely benign
rs2545223788	2:169,780,222	C/T	—	likely benign
rs1553543921	2:169,780,223	C/T	—	likely pathogenic
rs1346785729	2:169,780,225	C/T	—	likely benign
rs1691174446	2:169,780,234	G/A	—	likely benign
rs1691174857	2:169,780,240	A/G	—	likely benign
rs773567525	2:169,780,244	A/T	—	uncertain significance
rs766784155	2:169,780,248	C/T	—	uncertain significance
rs566857672	2:169,780,249	C/T	—	likely benign
rs372886308	2:169,780,250	G/A	—	uncertain significance
rs369538863	2:169,780,252	G/A	—	likely benign
rs2545224050	2:169,780,258	G/A	—	likely benign
rs1374522673	2:169,780,264	G/C	—	uncertain significance
rs2105873738	2:169,780,270	G/A	—	likely benign
rs756792557	2:169,780,281	T/C	—	uncertain significance
rs201296827	2:169,780,286	A/T	—	likely pathogenic
rs1691178673	2:169,780,288	G/A	—	likely benign
rs778800796	2:169,780,291	G/A	—	likely benign
rs2545224406	2:169,780,292	G/A	—	uncertain significance
rs1357034031	2:169,780,294	C/T	—	likely benign
rs72549394	2:169,780,295	C/T	—	pathogenic
rs555881834	2:169,780,296	G/A	—	pathogenic
rs2545224540	2:169,780,298	C/T	—	uncertain significance
rs1343228486	2:169,780,300	C/T	—	likely benign
rs1273618492	2:169,780,306	G/A	—	likely benign
rs972055625	2:169,780,311	T/A	—	pathogenic
rs1367569460	2:169,780,312	G/A	—	likely benign
rs1559173607	2:169,780,316	A/G	—	uncertain significance
rs772097949	2:169,780,320	C/G	—	uncertain significance
rs377043039	2:169,780,323	C/T	—	likely benign
rs769983873	2:169,780,326	G/A	—	pathogenic
rs1329421610	2:169,780,327	C/A	—	likely benign
rs773371540	2:169,780,330	C/T	—	conflicting classifications of pathogenicity
rs763244136	2:169,780,331	G/C	—	uncertain significance
rs575836219	2:169,780,336	C/T	—	likely benign
rs759786075	2:169,780,340	G/A	—	likely benign
rs369104228	2:169,780,342	G/A	—	conflicting classifications of pathogenicity
rs1461005678	2:169,780,347	T/A	—	likely benign
rs2545224945	2:169,780,349	G/C	—	likely benign
rs1396679813	2:169,780,350	A/G	—	likely benign
rs579275	2:169,780,366	T/C	—	benign
rs519887	2:169,780,885	T/C	—	benign
rs519035	2:169,780,961	T/C	—	benign
rs1164073145	2:169,781,149	T/C	—	likely benign
rs1188978356	2:169,781,151	G/C	—	likely benign
rs1691224765	2:169,781,159	A/G	—	likely benign
rs1691225783	2:169,781,187	A/G	—	likely benign
rs1254378779	2:169,781,197	G/A	—	likely benign
rs1691226181	2:169,781,200	T/C	—	likely benign
rs761200259	2:169,781,204	T/C	—	conflicting classifications of pathogenicity
rs1332690586	2:169,781,209	T/C	—	likely benign
rs1064797269	2:169,781,210	A/G	—	likely pathogenic
rs377426819	2:169,781,226	C/A	—	uncertain significance
rs866839234	2:169,781,229	G/A	—	pathogenic
rs1691228646	2:169,781,233	A/G	—	likely benign
rs2545228642	2:169,781,237	G/T	—	conflicting classifications of pathogenicity
rs1269270410	2:169,781,239	C/A	—	likely benign
rs758069019	2:169,781,240	C/T	missense variant	pathogenic
rs766285158	2:169,781,241	G/A	—	pathogenic
rs755010435	2:169,781,244	C/G	—	uncertain significance
rs780956310	2:169,781,245	A/C	—	uncertain significance
rs757268581	2:169,781,248	A/T	—	likely benign
rs778992761	2:169,781,255	C/A	—	uncertain significance
rs772241929	2:169,781,256	G/A	—	conflicting classifications of pathogenicity
rs199649780	2:169,781,263	C/G	—	conflicting classifications of pathogenicity
rs1402360352	2:169,781,266	C/A	—	likely benign

Showing 100 of 1,287 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.