ATP7B

ATPase copper transporting beta

Summary

This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein is a monomer, and functions as a copper-transporting ATPase which exports copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease which is characterized by copper accumulation. [provided by RefSeq, Dec 2019]

Known Variants2,161 total

rsidPosition (GRCh37)AllelesClassClinVar
rs88605029413:52,506,991C/T—uncertain significance
rs18243970013:52,507,087G/A—uncertain significance
rs92816913:52,507,110G/C—benign
rs95662472513:52,507,119G/C—uncertain significance
rs88605029613:52,507,136A/G—uncertain significance
rs74621148413:52,507,146G/A—uncertain significance
rs953579413:52,507,148G/A—likely benign
rs7777038613:52,507,175C/A—benign
rs1707611113:52,507,184T/C—benign
rs11368819513:52,507,233T/C—uncertain significance
rs55513604713:52,507,274C/T—uncertain significance
rs88605029713:52,507,300A/G—uncertain significance
rs88605029813:52,507,334A/T—uncertain significance
rs56704368613:52,507,393T/A—uncertain significance
rs88605029913:52,507,399A/G—uncertain significance
rs13905398113:52,507,401T/C—uncertain significance
rs144669480113:52,507,469A/G—uncertain significance
rs53701232413:52,507,483T/G—uncertain significance
rs4129278013:52,507,507C/T—conflicting classifications of pathogenicity
rs90472873913:52,507,606C/T—uncertain significance
rs76269287013:52,507,627T/C—uncertain significance
rs14513266813:52,507,652A/C—uncertain significance
rs56592016213:52,507,686C/T—uncertain significance
rs7949088213:52,507,710G/A—benign
rs105133213:52,507,720C/T—benign
rs55540554613:52,507,722G/C—uncertain significance
rs102608623113:52,507,764C/T—uncertain significance
rs98714137213:52,507,768G/C—uncertain significance
rs77953022413:52,507,788G/T—uncertain significance
rs88605030013:52,507,797G/A—uncertain significance
rs56449999013:52,507,816T/A—uncertain significance
rs53320908013:52,507,856G/A—uncertain significance
rs195681396913:52,507,873T/C—uncertain significance
rs54087829013:52,507,878T/C—uncertain significance
rs7974785813:52,507,883T/C—likely benign
rs56381311013:52,507,887C/A—uncertain significance
rs37178881413:52,507,929G/A—uncertain significance
rs55045105113:52,507,972C/T—uncertain significance
rs53278236613:52,508,022G/A—uncertain significance
rs55320265113:52,508,041A/G—uncertain significance
rs56644527613:52,508,049G/A—uncertain significance
rs53627912613:52,508,059T/A—uncertain significance
rs88605030213:52,508,106A/G—uncertain significance
rs88605030313:52,508,111A/G—uncertain significance
rs93396644113:52,508,125A/T—uncertain significance
rs195683048613:52,508,224G/T—uncertain significance
rs88605030413:52,508,382C/A—uncertain significance
rs55658476013:52,508,471G/A—uncertain significance
rs104770523713:52,508,537C/T—uncertain significance
rs88605030513:52,508,671G/T—uncertain significance
rs11542001913:52,508,702G/A—uncertain significance
rs52960644513:52,508,743C/T—uncertain significance
rs11190141313:52,508,744G/A—conflicting classifications of pathogenicity
rs54626245513:52,508,781C/T—uncertain significance
rs76355210813:52,508,858C/T—uncertain significance
rs20110878413:52,508,869C/A—likely benign
rs19392210013:52,508,876C/T—conflicting classifications of pathogenicity
rs7349814413:52,508,877G/A—likely benign
rs195685419813:52,508,894A/G—conflicting classifications of pathogenicity
rs19985983913:52,508,895G/T—likely benign
rs90746622013:52,508,898G/A—likely benign
rs77017542113:52,508,899T/G—uncertain significance
rs77589301613:52,508,901C/T—likely benign
rs20213120413:52,508,902T/C—uncertain significance
rs139203007013:52,508,903G/A—uncertain significance
rs138671111213:52,508,904C/T—likely benign
rs254753935713:52,508,910A/G—likely benign
rs159363384413:52,508,911T/C—uncertain significance
rs254753939513:52,508,912C/A—uncertain significance
rs123721195413:52,508,919A/G—likely benign
rs37749212213:52,508,929A/G—uncertain significance
rs254753963013:52,508,930G/C—uncertain significance
rs134117218513:52,508,934C/T—pathogenic
rs78048613113:52,508,935C/T—pathogenic
rs120922331513:52,508,942C/T—uncertain significance
rs254753982113:52,508,943C/T—likely benign
rs213838831413:52,508,946A/G—likely benign
rs37028552013:52,508,951C/T—uncertain significance
rs76066108213:52,508,952G/T—uncertain significance
rs76614110913:52,508,953T/C—uncertain significance
rs55386118313:52,508,956G/A—conflicting classifications of pathogenicity
rs254754014813:52,508,958T/C—likely benign
rs76438343713:52,508,963C/A—uncertain significance
rs156642870313:52,508,964G/A—likely benign
rs116340744213:52,508,967G/C—uncertain significance
rs20148336613:52,508,971C/T—uncertain significance
rs54333496513:52,508,972G/A—uncertain significance
rs78033896113:52,508,974G/C—uncertain significance
rs145480633313:52,508,975A/G—uncertain significance
rs93913690713:52,508,976T/C—likely benign
rs7320204813:52,508,979C/T—likely benign
rs76883324113:52,508,981T/A—conflicting classifications of pathogenicity
rs77863921813:52,508,982G/A—likely benign
rs14808161613:52,508,984C/T—uncertain significance
rs77173653313:52,508,985G/A—likely benign
rs11609148613:52,508,988C/T—likely benign
rs6098631713:52,508,989G/Amissense variantpathogenic
rs254754097213:52,508,990T/G—uncertain significance
rs195686293313:52,508,993G/A—likely benign
rs77636734013:52,508,994G/A—likely benign

Showing 100 of 2,161 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.