ATP13A1

ATPase 13A1

Summary

Enables membrane protein dislocase activity. Involved in extraction of mislocalized protein from ER membrane. Located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

Known Variants97 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14147381819:19,756,270C/Tbenign
rs77024981719:19,756,278C/Tuncertain significance
rs36969086019:19,756,281G/Auncertain significance
rs131017316519:19,756,295G/Auncertain significance
rs74852370419:19,756,465G/Cuncertain significance
rs74918920819:19,756,515G/Auncertain significance
rs36795238819:19,756,523A/Guncertain significance
rs78024558119:19,756,781C/Tuncertain significance
rs14461221219:19,756,787G/Clikely benign
rs37525427419:19,757,018C/Tuncertain significance
rs37070403919:19,757,019G/Alikely benign
rs76952175419:19,757,041C/Tuncertain significance
rs54594268819:19,757,064G/Tuncertain significance
rs7449742519:19,757,073A/Cbenign
rs14803946319:19,757,099T/Clikely benign
rs20077688719:19,757,104T/Cuncertain significance
rs104121774119:19,757,946G/Auncertain significance
rs89680636219:19,757,989G/Clikely benign
rs13932744019:19,758,092G/Auncertain significance
rs251407366919:19,758,095G/Auncertain significance
rs251407409119:19,758,298T/Guncertain significance
rs76341695919:19,758,315C/Tuncertain significance
rs251407440019:19,758,469G/Cuncertain significance
rs78012480119:19,758,500T/Cuncertain significance
rs101420793919:19,758,514G/Auncertain significance
rs118033478919:19,758,530C/Tuncertain significance
rs75844978919:19,758,550T/Cuncertain significance
rs251407458819:19,758,551T/Cuncertain significance
rs137173905719:19,758,558G/Alikely benign
rs14582983019:19,758,561C/Abenign
rs14749336319:19,760,398G/Abenign
rs143876275719:19,760,570G/Auncertain significance
rs77708056119:19,760,573C/Tuncertain significance
rs119416090619:19,760,614G/Auncertain significance
rs37090379319:19,760,642C/Tuncertain significance
rs206201286119:19,760,654G/Auncertain significance
rs76874755719:19,760,665T/Cuncertain significance
rs76271380519:19,760,702G/Tuncertain significance
rs14608366319:19,760,711C/Tuncertain significance
rs6174492419:19,760,721G/Abenign
rs141704001719:19,760,742C/Auncertain significance
rs206202608019:19,762,576T/Cuncertain significance
rs78060285919:19,763,406G/Auncertain significance
rs75014547019:19,764,609T/Auncertain significance
rs145340132019:19,764,666G/Auncertain significance
rs75971012319:19,764,695C/Guncertain significance
rs88691458919:19,764,699G/Auncertain significance
rs20019935819:19,765,421C/Tuncertain significance
rs75518276019:19,765,428C/Guncertain significance
rs93441144319:19,765,459C/Tuncertain significance
rs4552254419:19,765,499C/Tbenign
rs53001901919:19,765,505C/Tuncertain significance
rs77712315619:19,765,993G/Alikely benign
rs206205190119:19,766,340C/Guncertain significance
rs37525948519:19,766,400A/Guncertain significance
rs14379824619:19,766,425C/Tlikely benign
rs126716352319:19,766,735G/Tuncertain significance
rs14201818619:19,766,874G/Auncertain significance
rs251274981419:19,766,931T/Cuncertain significance
rs74899744519:19,766,937C/Tuncertain significance
rs77142733919:19,766,954G/Alikely benign
rs251274986619:19,766,973C/Tuncertain significance
rs148817744919:19,767,474T/Auncertain significance
rs6175667519:19,767,484G/Abenign
rs251275049919:19,767,507C/Tuncertain significance
rs75669554419:19,767,513C/Tuncertain significance
rs37111317019:19,767,522G/Tuncertain significance
rs125021026819:19,767,572C/Tuncertain significance
rs20137279319:19,767,668T/Cuncertain significance
rs131669821419:19,767,695C/Auncertain significance
rs13990768819:19,767,834C/Tuncertain significance
rs77759001819:19,767,873G/Auncertain significance
rs8008388219:19,767,899T/Cbenign
rs135074590719:19,768,213C/Tuncertain significance
rs7794267219:19,770,415G/Clikely benign
rs75724138819:19,770,449G/Auncertain significance
rs13816286819:19,770,513C/Tuncertain significance
rs37575182019:19,770,570C/Tuncertain significance
rs14422438119:19,770,591C/Tlikely benign
rs14331074719:19,770,777G/Auncertain significance
rs76506491219:19,770,780T/Cuncertain significance
rs77782032919:19,774,082G/Cuncertain significance
rs124259721619:19,774,084G/Auncertain significance
rs11148860319:19,774,099C/Guncertain significance
rs143094587419:19,774,201C/Auncertain significance
rs75382325819:19,774,204C/Tuncertain significance
rs139618104519:19,774,228G/Auncertain significance
rs104736836119:19,774,300A/Guncertain significance
rs88764861019:19,774,382G/Tuncertain significance
rs103040010019:19,774,391C/Auncertain significance
rs97795755919:19,774,409C/Tuncertain significance
rs76200269119:19,774,426G/Auncertain significance
rs76767859119:19,774,433C/Tuncertain significance
rs53989324319:19,774,436C/Tuncertain significance
rs36759580919:19,774,443C/Alikely benign
rs76523456319:19,774,447G/Auncertain significance
rs53617732319:19,774,459G/Auncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.