ATP1A2

ATPase Na+/K+ transporting subunit alpha 2

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 2 subunit. Mutations in this gene result in familial basilar or hemiplegic migraines, and in a rare syndrome known as alternating hemiplegia of childhood. [provided by RefSeq, Oct 2008]

Known Variants1,121 total

rsidPosition (GRCh37)AllelesClassClinVar
rs15700961:160,085,281A/T—benign
rs1154718711:160,085,482G/C—likely benign
rs16511514701:160,085,506G/A—uncertain significance
rs5696401991:160,085,582G/A—uncertain significance
rs412657611:160,085,604C/G—benign
rs13237714991:160,085,619C/A—likely benign
rs1921110851:160,085,621C/G—likely benign
rs7595424481:160,085,622G/A—likely benign
rs7569609011:160,085,638C/G—likely benign
rs16511583791:160,085,653T/C—uncertain significance
rs7554509461:160,085,658C/T—uncertain significance
rs7816873461:160,085,659G/A—conflicting classifications of pathogenicity
rs25248375141:160,085,661G/A—uncertain significance
rs14219664861:160,085,664G/A—likely pathogenic
rs25248375241:160,085,665T/A—likely pathogenic
rs21019800421:160,085,666G/A—uncertain significance
rs8883898531:160,085,669T/C—uncertain significance
rs16511592711:160,085,672C/T—likely benign
rs25248375961:160,085,673C/T—likely benign
rs25248376021:160,085,674C/T—likely benign
rs3729067531:160,085,743G/T—likely benign
rs28542441:160,085,868A/C—benign
rs20707001:160,085,955A/C—benign
rs75325561:160,090,459T/G—benign
rs28542461:160,090,674T/C—benign
rs8672858061:160,090,676G/A—likely benign
rs7461250721:160,090,677C/T—benign
rs726336731:160,090,685T/C—benign
rs25248483111:160,090,688T/A—likely benign
rs13458319011:160,090,690C/A—likely benign
rs12103748201:160,090,691C/T—likely benign
rs12585289031:160,090,692T/G—likely benign
rs7761808431:160,090,696G/T—uncertain significance
rs7612605481:160,090,702C/T—uncertain significance
rs7647558891:160,090,703G/C—uncertain significance
rs21019837721:160,090,704T/A—likely benign
rs16513738261:160,090,707G/A—uncertain significance
rs558582521:160,090,708T/A—conflicting classifications of pathogenicity
rs7626111191:160,090,712C/T—uncertain significance
rs7679131051:160,090,719C/T—likely benign
rs7530741301:160,090,720G/A—uncertain significance
rs16513747121:160,090,721C/T—uncertain significance
rs3712570191:160,090,727C/T—conflicting classifications of pathogenicity
rs7645596701:160,090,728G/A—conflicting classifications of pathogenicity
rs7544186561:160,090,729G/A—uncertain significance
rs7573737441:160,090,739G/T—uncertain significance
rs7791405401:160,090,740G/T—likely benign
rs15580024621:160,090,741G/A—uncertain significance
rs14370323051:160,090,742G/A—uncertain significance
rs7460733521:160,090,743C/T—likely benign
rs7586132911:160,090,744G/A—likely benign
rs16513761331:160,090,750A/G—uncertain significance
rs21019838431:160,090,758G/A—likely benign
rs7798681721:160,090,774G/A—uncertain significance
rs7468281441:160,090,779G/A—likely benign
rs16513771601:160,090,789G/A—uncertain significance
rs15532440211:160,090,791G/A—likely benign
rs8860454141:160,090,794G/A—uncertain significance
rs2016889461:160,090,795G/A—uncertain significance
rs15532440221:160,090,801G/A—likely pathogenic
rs13339205111:160,090,803G/A—uncertain significance
rs25248488421:160,090,819C/T—likely benign
rs1463294141:160,090,883G/A—likely benign
rs7645529921:160,090,963C/T—likely benign
rs16513834041:160,090,964T/C—likely benign
rs15580025721:160,090,970T/A—uncertain significance
rs7505711041:160,090,990C/T—likely benign
rs7960522811:160,090,992A/G—uncertain significance
rs617345271:160,090,993G/C—uncertain significance
rs16513849061:160,090,997T/A—uncertain significance
rs15709833001:160,091,013G/T—uncertain significance
rs7472832831:160,091,015C/T—conflicting classifications of pathogenicity
rs1441061691:160,091,016G/T—uncertain significance
rs16513877021:160,091,022A/G—uncertain significance
rs7480664421:160,091,023C/T—likely benign
rs25248494891:160,091,024C/A—uncertain significance
rs25248494971:160,091,027G/T—uncertain significance
rs3773350181:160,091,032C/T—likely benign
rs7488025471:160,091,034T/C—uncertain significance
rs16513881791:160,091,035G/C—likely benign
rs25248495221:160,091,036T/A—uncertain significance
rs16513882581:160,091,038C/T—likely benign
rs13674105321:160,091,040A/C—uncertain significance
rs7644974161:160,091,058C/T—likely benign
rs14751005651:160,091,061G/C—likely benign
rs2005580911:160,091,062G/C—likely benign
rs178467051:160,091,136C/T—benign
rs583131721:160,091,346G/A—benign
rs1475762151:160,092,845C/Tintron variant—
rs1147348231:160,092,924G/A—likely benign
rs1996605481:160,092,982C/T—likely benign
rs13062319561:160,092,983G/A—likely benign
rs13769464681:160,092,987C/G—likely benign
rs25248539941:160,092,989C/T—likely benign
rs3721050571:160,092,996C/A—likely benign
rs12103880681:160,093,004G/A—uncertain significance
rs16514749541:160,093,010C/G—uncertain significance
rs7960522821:160,093,017G/T—uncertain significance
rs1219186191:160,093,018C/Tmissense variantuncertain significance
rs1877334031:160,093,019G/T—conflicting classifications of pathogenicity

Showing 100 of 1,121 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.