ATP6V1B1

ATPase H+ transporting V1 subunit B1

Summary

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain B subunit isoforms and is found in the kidney. Mutations in this gene cause distal renal tubular acidosis associated with sensorineural deafness. [provided by RefSeq, Jul 2008]

Known Variants550 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs74631767	2:71,162,483	G/A	downstream gene variant	—
rs17663700	2:71,162,773	T/C	—	benign
rs116203509	2:71,162,926	G/C	—	likely benign
rs55655347	2:71,162,930	G/A	—	benign
rs11685700	2:71,162,996	A/G	—	benign
rs79652147	2:71,163,051	T/C	—	benign
rs115563001	2:71,163,066	C/T	—	conflicting classifications of pathogenicity
rs202030952	2:71,163,068	C/T	—	likely benign
rs1553415231	2:71,163,085	A/C	—	uncertain significance
rs11681642	2:71,163,086	T/C	—	benign
rs142881463	2:71,163,088	G/T	—	uncertain significance
rs876657744	2:71,163,089	C/A	—	uncertain significance
rs1553415239	2:71,163,090	C/T	—	likely benign
rs2104795225	2:71,163,102	C/G	—	uncertain significance
rs17853498	2:71,163,111	T/C	—	benign
rs782382032	2:71,163,114	G/A	—	likely benign
rs199559744	2:71,163,117	G/C	—	conflicting classifications of pathogenicity
rs781923112	2:71,163,120	C/A	—	likely benign
rs782066627	2:71,163,123	C/T	—	likely benign
rs111306070	2:71,163,124	G/C	—	uncertain significance
rs782513986	2:71,163,125	G/C	—	uncertain significance
rs2466223658	2:71,163,126	C/T	—	likely benign
rs1045132687	2:71,163,129	T/C	—	likely benign
rs1553415265	2:71,163,132	C/T	—	likely benign
rs2466223693	2:71,163,141	A/T	—	likely benign
rs1679841739	2:71,163,144	T/C	—	likely benign
rs1553415274	2:71,163,151	C/T	—	pathogenic
rs782447716	2:71,163,152	G/A	—	uncertain significance
rs782572595	2:71,163,156	A/G	—	likely benign
rs782596977	2:71,163,159	C/T	—	likely benign
rs781815747	2:71,163,160	A/G	—	conflicting classifications of pathogenicity
rs527738649	2:71,163,161	T/C	—	conflicting classifications of pathogenicity
rs1288346981	2:71,163,163	C/T	—	pathogenic
rs782255641	2:71,163,165	G/A	—	likely benign
rs200569195	2:71,163,167	C/T	—	uncertain significance
rs374746874	2:71,163,168	G/A	—	likely benign
rs17720303	2:71,163,173	T/C	—	likely benign
rs121964879	2:71,163,175	C/A	synonymous variant	uncertain significance
rs2104795409	2:71,163,177	A/C	—	likely benign
rs2104795415	2:71,163,180	C/T	—	likely benign
rs2104795418	2:71,163,183	C/T	—	likely benign
rs2466223829	2:71,163,189	C/T	—	likely benign
rs2466223854	2:71,163,195	C/G	—	likely benign
rs145773738	2:71,163,196	C/T	—	uncertain significance
rs782166295	2:71,163,197	G/A	—	uncertain significance
rs2466223866	2:71,163,198	T/C	—	likely benign
rs1679843577	2:71,163,203	G/C	—	likely pathogenic
rs1452632386	2:71,163,209	A/G	—	likely benign
rs2466223884	2:71,163,210	G/A	—	likely benign
rs782585088	2:71,163,211	C/A	—	likely benign
rs368755541	2:71,163,212	C/T	—	likely benign
rs35768563	2:71,163,220	C/T	—	likely benign
rs782803996	2:71,163,221	G/A	—	likely benign
rs759219	2:71,163,225	T/C	—	benign
rs34965400	2:71,163,277	G/A	—	likely benign
rs72622609	2:71,163,350	T/C	—	benign
rs60808492	2:71,163,390	G/A	—	benign
rs145032195	2:71,167,060	C/T	downstream gene variant	—
rs144309576	2:71,169,243	C/T	coding sequence variant	—
rs2266917	2:71,169,705	C/G	—	—
rs115289911	2:71,170,535	T/C	—	likely benign
rs75946270	2:71,170,568	C/T	—	benign
rs17040279	2:71,170,669	C/T	—	likely benign
rs189104175	2:71,170,760	C/T	—	likely benign
rs372137231	2:71,170,768	C/T	—	likely benign
rs781865960	2:71,170,774	C/T	—	likely benign
rs375384448	2:71,170,775	G/C	—	likely benign
rs782666539	2:71,170,778	C/T	—	conflicting classifications of pathogenicity
rs782328415	2:71,170,781	C/T	—	likely benign
rs782615475	2:71,170,783	C/T	—	likely benign
rs782378031	2:71,170,787	G/T	—	likely pathogenic
rs782151715	2:71,170,792	C/G	—	pathogenic
rs781931952	2:71,170,799	G/T	—	uncertain significance
rs2266918	2:71,170,807	C/T	—	benign
rs144845223	2:71,170,813	C/T	—	likely benign
rs369442690	2:71,170,814	G/A	—	uncertain significance
rs1680069492	2:71,170,816	G/A	—	likely benign
rs2466244654	2:71,170,819	C/A	—	likely benign
rs782734529	2:71,170,826	G/A	—	uncertain significance
rs1361849084	2:71,170,828	G/T	—	likely benign
rs781824659	2:71,170,835	C/G	—	uncertain significance
rs782628302	2:71,170,836	G/A	—	uncertain significance
rs1438456940	2:71,170,837	G/C	—	likely benign
rs2466244822	2:71,170,840	C/G	—	likely benign
rs1553416813	2:71,170,841	A/C	—	uncertain significance
rs2104805055	2:71,170,844	G/A	—	likely pathogenic
rs782267707	2:71,170,846	A/G	—	uncertain significance
rs1409355618	2:71,170,850	C/A	—	likely benign
rs2104805068	2:71,170,852	C/A	—	likely benign
rs113985534	2:71,170,892	G/A	—	benign
rs111990655	2:71,171,128	C/A	—	likely benign
rs1254511471	2:71,171,258	G/A	—	uncertain significance
rs180866890	2:71,184,970	C/G	—	likely benign
rs76318590	2:71,184,978	T/C	—	benign
rs17006571	2:71,185,086	A/C	—	benign
rs781936808	2:71,185,156	C/A	—	likely benign
rs555307787	2:71,185,160	T/C	—	likely benign
rs1553419352	2:71,185,162	T/A	—	likely benign
rs782226700	2:71,185,170	T/G	—	likely benign
rs782511029	2:71,185,172	C/T	—	likely benign

Showing 100 of 550 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.