ATP1A3

ATPase Na+/K+ transporting subunit alpha 3

Summary

The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 3 subunit. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

Known Variants964 total

rsidPosition (GRCh37)AllelesClassClinVar
rs57185715019:42,470,774C/T—likely benign
rs54619233919:42,470,790C/T—likely benign
rs78198086019:42,470,791G/A—uncertain significance
rs14927753619:42,470,793G/A—benign
rs88605447219:42,470,809A/T—uncertain significance
rs56519554819:42,470,842G/A—benign
rs19985416619:42,470,853A/G—benign
rs119720955119:42,470,883A/G—uncertain significance
rs78223978519:42,470,962T/G—benign
rs18088505719:42,470,983A/G—likely benign
rs155585863619:42,470,990G/C—uncertain significance
rs18606188619:42,471,017T/C—likely benign
rs91939019:42,471,050G/C—benign
rs78187830219:42,471,076G/T—uncertain significance
rs251402220619:42,471,089T/G—pathogenic
rs251402223319:42,471,104C/A—uncertain significance
rs251402224119:42,471,107C/T—likely benign
rs251402225319:42,471,109C/T—uncertain significance
rs251402225819:42,471,112C/T—uncertain significance
rs142851425519:42,471,117C/T—uncertain significance
rs78232596319:42,471,122A/G—likely benign
rs86898001619:42,471,128A/G—likely benign
rs251402232119:42,471,135G/A—likely benign
rs56006560519:42,471,267G/A—likely benign
rs207505274619:42,471,384T/C—likely benign
rs37542111919:42,471,388C/G—likely benign
rs78242459519:42,471,389G/A—conflicting classifications of pathogenicity
rs78202329319:42,471,391G/C—uncertain significance
rs214594119519:42,471,400C/T—conflicting classifications of pathogenicity
rs78220493219:42,471,403C/G—uncertain significance
rs207505304219:42,471,406G/A—uncertain significance
rs78208645219:42,471,408G/A—likely benign
rs78277898619:42,471,416G/A—uncertain significance
rs117251892519:42,471,417C/A—likely benign
rs214594126519:42,471,418A/G—uncertain significance
rs155585883119:42,471,420G/A—likely benign
rs207505342219:42,471,425G/C—uncertain significance
rs251402361719:42,471,431G/A—uncertain significance
rs155585883419:42,471,434T/C—uncertain significance
rs251402363319:42,471,437C/T—uncertain significance
rs14619976519:42,471,438G/A—benign
rs214594133219:42,471,439T/C—uncertain significance
rs60623144719:42,471,440C/Tmissense variantuncertain significance
rs37291944719:42,471,441G/A—likely benign
rs156885197519:42,471,442T/A—uncertain significance
rs214594135419:42,471,445A/G—uncertain significance
rs78178633619:42,471,446C/T—uncertain significance
rs78209632319:42,471,447G/A—likely benign
rs78272493519:42,471,452T/C—uncertain significance
rs214594138119:42,471,454A/G—uncertain significance
rs159970273419:42,471,461T/C—uncertain significance
rs18230936819:42,471,468G/A—likely benign
rs143929912419:42,471,471G/A—conflicting classifications of pathogenicity
rs251402375719:42,471,474A/T—uncertain significance
rs251402376119:42,471,475C/A—uncertain significance
rs96530114219:42,471,477G/A—likely benign
rs251402377419:42,471,480C/T—uncertain significance
rs251402380819:42,471,488T/C—uncertain significance
rs251402381419:42,471,490G/A—uncertain significance
rs78265565619:42,471,491G/C—uncertain significance
rs251402383519:42,471,495G/C—uncertain significance
rs118512771619:42,471,498G/A—likely benign
rs155585885119:42,471,500G/T—likely benign
rs165025963319:42,471,509A/C—likely benign
rs13788733719:42,471,525G/A—benign
rs11506248319:42,471,550C/T—likely benign
rs78225026019:42,471,796G/A—likely benign
rs251402511519:42,471,797G/C—likely benign
rs251402513919:42,471,801G/A—likely benign
rs78242256319:42,471,802C/T—likely benign
rs19057046919:42,471,803G/A—benign
rs251402516519:42,471,810T/C—uncertain significance
rs207505846219:42,471,813C/G—likely pathogenic
rs251402520319:42,471,827T/G—uncertain significance
rs78261150019:42,471,828G/A—uncertain significance
rs155585892519:42,471,829C/T—uncertain significance
rs155585893219:42,471,837C/T—likely benign
rs78266589319:42,471,839C/T—uncertain significance
rs78243793119:42,471,840G/A—likely benign
rs20058295119:42,471,848C/T—conflicting classifications of pathogenicity
rs14141286119:42,471,849G/A—likely benign
rs14517930419:42,471,850G/T—conflicting classifications of pathogenicity
rs53430190719:42,471,855G/A—likely benign
rs78220475819:42,471,858G/A—likely benign
rs251402532319:42,471,863G/A—likely benign
rs60623144619:42,471,871G/Tmissense variant—
rs105540326519:42,471,875G/A—likely benign
rs155585894919:42,471,876G/A—likely benign
rs14829237619:42,471,879C/T—likely benign
rs251402538819:42,471,880G/A—uncertain significance
rs214594237219:42,471,884C/T—likely pathogenic
rs214594238819:42,471,890A/G—uncertain significance
rs251402543319:42,471,892A/C—uncertain significance
rs207505931619:42,471,894C/A—likely benign
rs88604143119:42,471,895C/Tmissense variantpathogenic
rs39812288719:42,471,896C/Tmissense variantpathogenic
rs14142169219:42,471,897G/A—likely benign
rs207505947219:42,471,900G/T—uncertain significance
rs133037142719:42,471,906G/C—uncertain significance
rs214594247319:42,471,927G/A—likely benign

Showing 100 of 964 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.