JAK3

Janus kinase 3

Summary

The protein encoded by this gene is a member of the Janus kinase (JAK) family of tyrosine kinases involved in cytokine receptor-mediated intracellular signal transduction. It is predominantly expressed in immune cells and transduces a signal in response to its activation via tyrosine phosphorylation by interleukin receptors. Mutations in this gene are associated with autosomal SCID (severe combined immunodeficiency disease). [provided by RefSeq, Jul 2008]

Known Variants1,053 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1188819:17,935,626T/C—benign
rs99023289719:17,935,717C/T—uncertain significance
rs54629397719:17,935,719C/T—uncertain significance
rs56985476419:17,935,765G/T—uncertain significance
rs88605426619:17,935,774T/C—uncertain significance
rs18877356619:17,935,791A/T—likely benign
rs88605426719:17,935,800T/C—uncertain significance
rs140632900819:17,935,891A/C—uncertain significance
rs19152293119:17,936,004G/A—likely benign
rs88605426819:17,936,021A/G—uncertain significance
rs14598508619:17,936,029G/A—uncertain significance
rs144910650519:17,936,030G/A—uncertain significance
rs75055861819:17,936,043C/A—uncertain significance
rs7997219119:17,936,130C/T—benign
rs209420211319:17,936,154C/G—uncertain significance
rs11810193919:17,936,233C/T—benign
rs7301496719:17,936,259G/A—benign
rs77179355819:17,936,265T/A—uncertain significance
rs55260267519:17,936,288C/G—uncertain significance
rs88605427019:17,936,334G/T—uncertain significance
rs321341519:17,936,355C/T—likely benign
rs88605427119:17,936,458C/G—uncertain significance
rs37391772219:17,936,514T/C—benign
rs56052936819:17,936,538G/A—uncertain significance
rs88605427219:17,936,567G/A—uncertain significance
rs54367915819:17,936,578C/T—uncertain significance
rs37018914619:17,936,609C/G—uncertain significance
rs321280319:17,936,615C/T—likely benign
rs209420295919:17,936,653T/C—uncertain significance
rs88605427319:17,936,705G/A—uncertain significance
rs92308618119:17,936,781G/A—uncertain significance
rs7133211419:17,936,898T/A—benign
rs88605427419:17,936,899A/T—uncertain significance
rs136426773519:17,936,945C/T—uncertain significance
rs88605427519:17,936,959G/A—uncertain significance
rs57213947419:17,937,045T/A—uncertain significance
rs20103687419:17,937,049C/T—uncertain significance
rs19241700819:17,937,051G/A—uncertain significance
rs321280219:17,937,104G/T—benign
rs90248940419:17,937,130G/A—uncertain significance
rs20020763419:17,937,148C/T—uncertain significance
rs101145807219:17,937,149G/A—uncertain significance
rs18546285019:17,937,181G/A—uncertain significance
rs20065872719:17,937,246C/T—uncertain significance
rs20171885419:17,937,253G/A—likely benign
rs19036607419:17,937,254G/T—likely benign
rs88605427719:17,937,281C/A—uncertain significance
rs7904451219:17,937,300T/A—benign
rs209420421119:17,937,348C/T—uncertain significance
rs321280019:17,937,414C/G—benign
rs19967926419:17,937,415C/A—uncertain significance
rs300819:17,937,429A/G—benign
rs14987329819:17,937,479G/A—conflicting classifications of pathogenicity
rs321279919:17,937,516C/T—benign
rs20012185719:17,937,542C/T—likely benign
rs159986281519:17,937,556G/A—uncertain significance
rs14106919619:17,937,561G/A—likely benign
rs121716818819:17,937,567G/C—likely benign
rs127598376019:17,937,571T/C—uncertain significance
rs53669396119:17,937,582C/T—likely benign
rs105160265819:17,937,587G/A—uncertain significance
rs126948933919:17,937,590G/A—uncertain significance
rs37415233919:17,937,610T/C—uncertain significance
rs75895227919:17,937,615C/T—likely benign
rs75792041119:17,937,619C/T—uncertain significance
rs20107396819:17,937,627G/A—likely benign
rs20130119219:17,937,638T/A—uncertain significance
rs57749686519:17,937,645C/T—likely benign
rs20141968419:17,937,648G/A—likely benign
rs19961193219:17,937,651G/T—likely benign
rs54615457419:17,937,652C/T—uncertain significance
rs76870475319:17,937,653C/T—uncertain significance
rs37622066019:17,937,657G/T—likely benign
rs77462142619:17,937,658G/T—uncertain significance
rs14496871419:17,937,659C/T—benign
rs13859370519:17,937,660G/A—conflicting classifications of pathogenicity
rs77749361219:17,937,670G/A—uncertain significance
rs209420487819:17,937,673C/T—uncertain significance
rs126500580619:17,937,674G/A—uncertain significance
rs14160778819:17,937,675G/A—likely benign
rs209420491419:17,937,702C/T—likely benign
rs20058016819:17,937,710G/A—uncertain significance
rs75208886919:17,937,713C/T—conflicting classifications of pathogenicity
rs75791057119:17,937,714G/A—conflicting classifications of pathogenicity
rs116085660819:17,937,720C/T—pathogenic
rs20137961219:17,937,728C/T—likely benign
rs20015909319:17,937,729G/A—likely benign
rs209420496519:17,937,730G/A—likely benign
rs20126486419:17,937,731G/A—likely benign
rs20000849419:17,937,735C/A—likely benign
rs76877777319:17,937,737G/A—likely benign
rs321279819:17,937,758C/T—benign
rs321279719:17,937,786C/T—benign
rs11533246019:17,937,793G/A—likely benign
rs6048507319:17,940,705C/T—benign
rs321278119:17,940,816G/C—benign
rs321278019:17,940,842G/Aregulatory region variantbenign
rs53635809719:17,940,844C/T—likely benign
rs86681527119:17,940,907C/T—likely benign
rs55627196019:17,940,908G/T—likely benign

Showing 100 of 1,053 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.