ATP6V0A2

ATPase H+ transporting V0 subunit a2

Summary

The protein encoded by this gene is a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for the acidification of diverse cellular components. V-ATPase is comprised of a membrane peripheral V(1) domain for ATP hydrolysis, and an integral membrane V(0) domain for proton translocation. The subunit encoded by this gene is a component of the V(0) domain. Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome. [provided by RefSeq, Jul 2009]

Known Variants569 total

rsidPosition (GRCh37)AllelesClassClinVar
rs76773929912:124,196,602T/A—likely benign
rs14618414712:124,196,604T/A—benign
rs11733601612:124,196,606T/A—benign
rs1105733612:124,196,614A/G—benign
rs11569786112:124,196,669T/C—likely benign
rs11132391312:124,196,706A/T—benign
rs11501779212:124,196,713G/C—benign
rs11659213812:124,196,714A/T—benign
rs713373412:124,196,735G/C—benign
rs55733364612:124,196,818G/C—likely benign
rs88604905812:124,196,870C/A—uncertain significance
rs56116381312:124,196,886A/G—likely benign
rs54032471712:124,196,943C/A—uncertain significance
rs88604905912:124,196,965C/T—uncertain significance
rs53236021512:124,196,996C/T—likely benign
rs126418132412:124,196,999G/A—uncertain significance
rs213587087612:124,197,129G/A—uncertain significance
rs127439880612:124,197,130G/A—likely benign
rs254182278312:124,197,131A/G—uncertain significance
rs75268948912:124,197,138C/T—uncertain significance
rs75821469212:124,197,140A/G—uncertain significance
rs148562445512:124,197,145C/T—likely benign
rs123226711412:124,197,146C/G—uncertain significance
rs254182291212:124,197,175G/T—likely benign
rs91699669912:124,197,177C/T—uncertain significance
rs93327687912:124,197,184G/A—likely benign
rs121664988412:124,197,190C/G—likely benign
rs76008312112:124,197,193C/T—likely benign
rs195630393112:124,197,201G/A—uncertain significance
rs77645583312:124,197,202C/G—likely benign
rs132313238612:124,197,214G/T—likely benign
rs75146366412:124,197,236G/A—likely benign
rs141386072512:124,197,238C/A—likely benign
rs37309964312:124,197,239G/A—likely benign
rs136039402512:124,197,242C/T—likely benign
rs14493074912:124,197,243G/A—benign
rs74609945312:124,197,248A/T—likely benign
rs37574675912:124,197,249C/G—likely benign
rs6664736412:124,197,280A/C—benign
rs57133083512:124,197,310G/T—likely benign
rs131049483612:124,201,733T/C——
rs11459461412:124,203,097G/A—likely benign
rs76764164412:124,203,157A/G—likely benign
rs133013918812:124,203,161T/G—likely benign
rs254183488012:124,203,166T/C—likely benign
rs213587957312:124,203,169G/T—likely pathogenic
rs88721582912:124,203,180A/G—uncertain significance
rs254183501812:124,203,222G/C—uncertain significance
rs195636794412:124,203,229A/G—likely benign
rs8035675012:124,203,239C/Tstop gainedpathogenic
rs57366866512:124,203,240G/A—uncertain significance
rs123018914412:124,203,256T/A—likely benign
rs140404624612:124,203,263T/G—likely benign
rs11323927412:124,203,483G/A—benign
rs648889812:124,203,832G/Aregulatory region variant—
rs14990273812:124,206,615A/G—likely benign
rs14646464212:124,206,635T/C—likely benign
rs77913311712:124,206,882A/G—uncertain significance
rs254184264612:124,206,884T/A—likely benign
rs54144127912:124,206,894A/G—likely benign
rs254184268812:124,206,906G/A—uncertain significance
rs75568700412:124,206,931T/G—uncertain significance
rs37537280812:124,206,935C/T—likely benign
rs36997821012:124,206,938T/C—likely benign
rs19963361412:124,206,964C/T—uncertain significance
rs13978586612:124,206,965G/A—conflicting classifications of pathogenicity
rs124735139312:124,206,992G/A—uncertain significance
rs8035675112:124,206,996G/A—pathogenic
rs20107126012:124,207,011C/T—likely benign
rs145716374412:124,207,012G/A—likely benign
rs254184317812:124,207,013A/G—likely benign
rs730164112:124,207,098T/C—benign
rs978820412:124,207,209C/T—benign
rs978798712:124,207,212C/T—benign
rs11341839112:124,208,936G/A—likely benign
rs14964011812:124,209,011G/A—benign
rs155529641212:124,209,184C/A—likely benign
rs55149437412:124,209,204C/G—uncertain significance
rs213588740112:124,209,208T/A—pathogenic
rs79472764312:124,209,210C/Tstop gainedpathogenic
rs14449908912:124,209,215G/T—uncertain significance
rs56333386912:124,209,218C/T—conflicting classifications of pathogenicity
rs76992742712:124,209,219G/A—uncertain significance
rs76332985012:124,209,239C/A—likely benign
rs156627634712:124,209,242T/A—likely benign
rs8035675212:124,209,259———
rs254184601512:124,209,276G/A—uncertain significance
rs14022327812:124,209,279C/A—uncertain significance
rs76478736312:124,209,288T/C—uncertain significance
rs19980122112:124,209,294C/T—conflicting classifications of pathogenicity
rs20210625612:124,209,312A/C—uncertain significance
rs131934421012:124,209,315A/G—uncertain significance
rs78078882112:124,209,316C/T—uncertain significance
rs195643293812:124,209,319T/C—uncertain significance
rs14350974712:124,209,328G/T—conflicting classifications of pathogenicity
rs113978912:124,209,332T/C—benign
rs93621462212:124,209,333G/A—uncertain significance
rs53525966712:124,209,350C/T—likely benign
rs1183714412:124,209,352C/T—benign
rs5954004112:124,209,568C/T—benign

Showing 100 of 569 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.