ATP6V0A4

ATPase H+ transporting V0 subunit a4

Summary

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent 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. This gene is one of four genes in man and mouse that encode different isoforms of the a subunit. Alternatively spliced transcript variants encoding the same protein have been described. Mutations in this gene are associated with renal tubular acidosis associated with preserved hearing. [provided by RefSeq, Jul 2008]

Known Variants361 total

rsidPosition (GRCh37)AllelesClassClinVar
rs88467:138,391,130C/T—benign
rs10474224537:138,391,189C/A—uncertain significance
rs558320087:138,391,207G/A—benign
rs759208977:138,391,258G/T—benign
rs784198257:138,391,296G/A—benign
rs7465710937:138,391,345A/T—uncertain significance
rs21171663187:138,391,371A/G—conflicting classifications of pathogenicity
rs3743054557:138,391,377C/T—uncertain significance
rs3689649327:138,391,378G/A—likely benign
rs69566467:138,391,411T/C—likely benign
rs1411944657:138,391,421T/C—uncertain significance
rs2676066717:138,391,434C/Tmissense variantuncertain significance
rs9342667337:138,391,441G/T—likely pathogenic
rs21171665337:138,391,446T/C—pathogenic
rs24857494547:138,391,462C/T—conflicting classifications of pathogenicity
rs7706246307:138,391,481C/T—conflicting classifications of pathogenicity
rs2013173157:138,391,482G/A—likely benign
rs731669217:138,391,554G/A—benign
rs127073947:138,391,596A/G—benign
rs5552830037:138,391,621G/A—likely benign
rs3755810317:138,394,354G/C—uncertain significance
rs7808781557:138,394,366T/G—uncertain significance
rs18036306617:138,394,370A/G—uncertain significance
rs12276062327:138,394,372T/C—uncertain significance
rs289390817:138,394,378C/Tmissense variantpathogenic
rs7691642457:138,394,379G/A—pathogenic
rs3699996177:138,394,385C/T—uncertain significance
rs3722304227:138,394,386G/A—conflicting classifications of pathogenicity
rs1386277757:138,394,395A/G—conflicting classifications of pathogenicity
rs7676113107:138,394,469C/T—uncertain significance
rs1423135417:138,394,472C/G—uncertain significance
rs7545179687:138,394,490G/A—pathogenic
rs617476777:138,394,491C/T—benign
rs617476787:138,394,492G/A—benign
rs1907926997:138,394,502C/T—uncertain significance
rs1498649747:138,394,503G/A—likely benign
rs2007594597:138,394,505T/C—uncertain significance
rs11719747767:138,394,527C/T—likely benign
rs8860620127:138,394,538G/T—uncertain significance
rs18036437697:138,394,541C/T—pathogenic
rs14170468417:138,394,543G/A—uncertain significance
rs21171779667:138,394,547G/A—likely benign
rs1166494897:138,394,551C/T—benign
rs1506884677:138,394,701C/T—benign
rs10402202537:138,400,490C/T—likely benign
rs1458097317:138,400,508C/T—pathogenic
rs1219083677:138,400,509G/Astop gainedpathogenic
rs18040040867:138,400,511G/T—uncertain significance
rs7463688927:138,400,538C/A—uncertain significance
rs7700526007:138,400,539G/A—likely pathogenic
rs21171932037:138,400,540C/A—likely benign
rs1428601467:138,400,574C/T—uncertain significance
rs15629783607:138,400,593T/C—uncertain significance
rs3745636257:138,400,596C/T—uncertain significance
rs1140552367:138,400,611C/T—uncertain significance
rs7626193847:138,400,612G/A—likely benign
rs2011741707:138,400,635C/T—conflicting classifications of pathogenicity
rs7576260567:138,400,636G/A—likely benign
rs9992297:138,400,796C/T—benign
rs9992287:138,400,858A/C—benign
rs773455067:138,406,310C/T—likely benign
rs38235017:138,406,368C/T—benign
rs37349427:138,406,404A/G—benign
rs3698755997:138,406,637G/C—uncertain significance
rs24858069687:138,406,641C/A—likely pathogenic
rs3712139827:138,406,652T/C—uncertain significance
rs1424519167:138,406,656C/G—uncertain significance
rs3690282947:138,406,657G/A—likely benign
rs7586107387:138,406,663A/G—likely benign
rs3762737207:138,406,668C/T—uncertain significance
rs3695963237:138,406,669G/T—uncertain significance
rs7614029687:138,406,700C/G—uncertain significance
rs1996502597:138,406,701G/A—uncertain significance
rs1478892617:138,406,735C/G—uncertain significance
rs1507778397:138,406,746C/A—likely benign
rs14663716187:138,406,771C/G—likely pathogenic
rs12094589627:138,406,772T/A—likely pathogenic
rs1835719257:138,406,778C/T—likely benign
rs1885540797:138,407,104G/T—likely benign
rs38005697:138,411,425C/G——
rs5558749127:138,413,501C/T—uncertain significance
rs7631635137:138,413,507T/C—uncertain significance
rs1501757837:138,413,517G/A—uncertain significance
rs7517909517:138,413,519T/C—uncertain significance
rs18048415557:138,413,530A/G—likely benign
rs1869970787:138,413,539C/T—conflicting classifications of pathogenicity
rs7789479217:138,413,556T/C—uncertain significance
rs1414111247:138,413,560C/T—benign
rs1492897107:138,413,561G/A—uncertain significance
rs7476717507:138,413,596T/C—likely benign
rs7515948467:138,413,614G/A—likely benign
rs3739495157:138,413,626G/A—likely benign
rs37349417:138,413,753G/A—benign
rs102308707:138,413,902A/G—benign
rs37786947:138,417,337G/A—benign
rs1417412587:138,417,353A/G—likely benign
rs102738007:138,417,400G/A—benign
rs37786937:138,417,427C/T—benign
rs102470547:138,417,480A/G—benign
rs7809671357:138,417,607A/T—likely benign

Showing 100 of 361 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.