TCIRG1

T cell immune regulator 1, ATPase H+ transporting V0 subunit a3

Summary

This gene encodes a subunit of a large protein complex known as a vacuolar H+-ATPase (V-ATPase). The protein complex acts as a pump to move protons across the membrane. This movement of protons helps regulate the pH of cells and their surrounding environment. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. V-ATPase is comprised of a cytosolic V1 domain and a transmembrane V0 domain. Alternative splicing results in multiple transcript variants. Mutations in this gene are associated with infantile malignant osteopetrosis. [provided by RefSeq, May 2017]

Known Variants1,098 total

rsidPosition (GRCh37)AllelesClassClinVar
rs53656399411:67,806,463G/C—uncertain significance
rs55478844011:67,806,538G/A—uncertain significance
rs91750510711:67,806,587G/T—pathogenic
rs213442514111:67,806,591G/A—uncertain significance
rs20020142211:67,808,732C/T—uncertain significance
rs126513224511:67,808,744C/A—likely benign
rs20197272911:67,808,746C/T—uncertain significance
rs56399611511:67,808,754C/T—uncertain significance
rs76820369811:67,808,755G/A—uncertain significance
rs37324432811:67,808,759C/T—conflicting classifications of pathogenicity
rs159079995811:67,808,762G/A—likely benign
rs76739213611:67,808,765G/A—likely benign
rs159079997811:67,808,766G/T—uncertain significance
rs76542656111:67,808,772C/T—likely benign
rs213443055111:67,808,774G/A—likely benign
rs135626537311:67,808,775G/A—uncertain significance
rs249560671311:67,808,778C/T—pathogenic
rs185514798411:67,808,780G/A—likely benign
rs249560675011:67,808,783C/T—likely benign
rs213443060211:67,808,788T/C—uncertain significance
rs213443061811:67,808,792C/T—likely benign
rs213443062611:67,808,793A/G—uncertain significance
rs76423067811:67,808,795A/G—likely benign
rs103191738411:67,808,796G/A—uncertain significance
rs37703446311:67,808,797C/T—conflicting classifications of pathogenicity
rs11142432611:67,808,798G/A—conflicting classifications of pathogenicity
rs213443070511:67,808,809C/T—uncertain significance
rs249560693011:67,808,810C/G—likely benign
rs77441695211:67,808,813C/T—likely benign
rs13939714511:67,808,820C/T—uncertain significance
rs74791446311:67,808,821G/A—uncertain significance
rs147748305711:67,808,822G/A—likely benign
rs77189646911:67,808,825G/A—likely benign
rs14185945011:67,808,828C/T—conflicting classifications of pathogenicity
rs54953218211:67,808,829G/A—uncertain significance
rs77557653511:67,808,835G/A—uncertain significance
rs76297907011:67,808,836G/T—uncertain significance
rs130099836411:67,808,840C/T—likely benign
rs92936265111:67,808,841G/A—uncertain significance
rs213443085411:67,808,844G/A—uncertain significance
rs213443086111:67,808,846G/C—uncertain significance
rs213443088511:67,808,850A/G—uncertain significance
rs37730380011:67,808,856G/A—pathogenic
rs75188196211:67,808,859A/Tsplice region variantpathogenic
rs213443092211:67,808,860G/A—likely pathogenic
rs185515361911:67,808,862T/G—likely benign
rs249560730311:67,808,864G/C—likely benign
rs136420120511:67,808,865G/T—likely benign
rs249560731611:67,808,867G/T—likely benign
rs20052439911:67,808,874C/T—likely benign
rs78045559511:67,808,875G/C—likely benign
rs711692411:67,808,938T/C—benign
rs120604766111:67,809,201C/T—likely benign
rs53148934811:67,809,204C/T—likely benign
rs76206540711:67,809,205G/T—likely benign
rs213443216311:67,809,212A/C—likely benign
rs37531757511:67,809,214C/T—conflicting classifications of pathogenicity
rs213443219411:67,809,216A/G—likely benign
rs249560953611:67,809,218A/T—likely pathogenic
rs249560954011:67,809,219G/A—likely pathogenic
rs75434226111:67,809,222C/T—likely benign
rs14710288911:67,809,225C/T—conflicting classifications of pathogenicity
rs185518039111:67,809,230C/T—uncertain significance
rs75798071411:67,809,231G/A—likely benign
rs140555090611:67,809,237C/T—likely benign
rs77743738611:67,809,238G/A—uncertain significance
rs74676013611:67,809,239C/G—uncertain significance
rs213443228311:67,809,240C/T—likely benign
rs213443228911:67,809,243C/T—likely benign
rs37031935511:67,809,250C/T—uncertain significance
rs78115712211:67,809,251G/A—uncertain significance
rs11814125011:67,809,256G/C—benign
rs249560982911:67,809,258G/C—likely benign
rs249560985711:67,809,261T/A—likely benign
rs74826737211:67,809,267T/C—likely benign
rs3602730111:67,809,268T/C—likely benign
rs36877760311:67,809,269G/A—uncertain significance
rs76366701211:67,809,271C/T—uncertain significance
rs15064833211:67,809,272G/T—uncertain significance
rs185518460211:67,809,274T/C—uncertain significance
rs94844516511:67,809,279G/A—likely benign
rs159080110811:67,809,285G/A—likely benign
rs118381058611:67,809,288G/A—likely benign
rs37270775711:67,809,298A/G—uncertain significance
rs213443249811:67,809,299G/T—pathogenic
rs147099930311:67,809,303G/A—pathogenic
rs37577024611:67,809,306G/A—likely benign
rs127603955111:67,809,308T/A—likely benign
rs76573929611:67,809,309C/T—likely benign
rs139247484011:67,809,313G/T—likely benign
rs75216357111:67,809,316C/G—likely benign
rs18759337811:67,809,980C/Tregulatory region variant—
rs148931088811:67,810,090T/G—likely benign
rs99625660311:67,810,093C/T—likely benign
rs52917474011:67,810,094G/A—likely benign
rs185522442611:67,810,095T/C—likely benign
rs119693049611:67,810,098C/T—likely benign
rs75121500411:67,810,103C/T—likely benign
rs120757094911:67,810,104G/A—likely benign
rs18388521811:67,810,105C/T—conflicting classifications of pathogenicity

Showing 100 of 1,098 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.