STAT1

signal transducer and activator of transcription 1

Summary

The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. The protein encoded by this gene can be activated by various ligands including interferon-alpha, interferon-gamma, EGF, PDGF and IL6. This protein mediates the expression of a variety of genes, which is thought to be important for cell viability in response to different cell stimuli and pathogens. The protein plays an important role in immune responses to viral, fungal and mycobacterial pathogens. Mutations in this gene are associated with Immunodeficiency 31B, 31A, and 31C. [provided by RefSeq, Jun 2020]

Known Variants560 total

rsidPosition (GRCh37)AllelesClassClinVar
rs8860553732:191,833,801T/C—uncertain significance
rs14330228312:191,833,915T/C—uncertain significance
rs16912718352:191,833,947T/C—uncertain significance
rs7557527022:191,833,956G/A—uncertain significance
rs113052:191,834,030T/C—benign
rs3685769232:191,834,112C/T—uncertain significance
rs16912882682:191,834,131T/C—uncertain significance
rs8860553742:191,834,169T/C—uncertain significance
rs16912945832:191,834,242G/C—uncertain significance
rs9679750982:191,834,254T/A—uncertain significance
rs13294571742:191,834,266A/G—uncertain significance
rs9779129562:191,834,275G/A—uncertain significance
rs5504896592:191,834,335C/G—uncertain significance
rs7806556722:191,834,363G/A—uncertain significance
rs5708544632:191,834,369T/G—benign
rs16913077522:191,834,417T/C—uncertain significance
rs5620811302:191,834,427A/G—benign
rs9674547242:191,834,470C/T—uncertain significance
rs413636482:191,834,487T/C—benign
rs8860553752:191,834,497T/G—uncertain significance
rs8860553762:191,834,508C/G—uncertain significance
rs1885579052:191,834,574C/T—uncertain significance
rs1809048232:191,834,652T/C—benign
rs1860334872:191,834,759A/C—uncertain significance
rs454496932:191,834,768A/G—benign
rs12855627682:191,834,784A/C—uncertain significance
rs414764452:191,834,894G/A—benign
rs2003447312:191,834,968C/T—uncertain significance
rs1399585712:191,835,001C/G—likely benign
rs1860321492:191,835,065C/G—benign
rs16913582402:191,835,066T/C—uncertain significance
rs8860553772:191,835,067A/G—uncertain significance
rs1905425242:191,835,125T/A—likely benign
rs7621975672:191,835,148G/A—uncertain significance
rs414818472:191,835,275A/G—benign
rs5712076862:191,835,292A/G—uncertain significance
rs9384036502:191,835,308G/A—uncertain significance
rs9669384222:191,835,459A/C—uncertain significance
rs3686949842:191,835,461G/A—likely benign
rs11936833482:191,835,463G/A—likely benign
rs37713002:191,835,596T/Gregulatory region variantbenign
rs67189022:191,838,204C/Tintron variant—
rs24704071642:191,839,537G/A—likely benign
rs13697455862:191,839,538G/A—likely benign
rs1157589052:191,839,539C/A—benign
rs7569048602:191,839,544C/T—likely benign
rs3743415772:191,839,545G/A—likely benign
rs12202110022:191,839,548G/A—likely benign
rs24704072912:191,839,550A/G—uncertain significance
rs10018446482:191,839,558T/C—uncertain significance
rs7801563892:191,839,564C/T—uncertain significance
rs7493331592:191,839,565G/A—likely benign
rs24704074002:191,839,577G/A—likely benign
rs11651948032:191,839,592C/A—likely benign
rs7789004282:191,839,598G/A—likely benign
rs12619390302:191,839,601A/G—likely benign
rs7483887422:191,839,604C/T—likely benign
rs2022234642:191,839,619G/C—likely benign
rs16917830022:191,839,620G/A—uncertain significance
rs1401089562:191,839,622G/T—likely benign
rs24704076752:191,839,628G/A—likely benign
rs7734976972:191,839,634T/C—likely benign
rs15746366742:191,839,635G/A—likely pathogenic
rs15534919842:191,839,649A/G—likely benign
rs7610398912:191,839,655G/A—likely benign
rs353648172:191,839,658A/C—benign
rs16917855182:191,839,662A/C—likely benign
rs16917874052:191,839,673A/G—likely benign
rs19144082:191,839,976C/T—benign
rs21249966032:191,840,536A/T—likely pathogenic
rs5463232052:191,840,539C/T—uncertain significance
rs24704130412:191,840,547A/C—uncertain significance
rs1378526772:191,840,556A/Gmissense variantpathogenic
rs21249967232:191,840,571T/C—pathogenic
rs24704131762:191,840,572A/T—uncertain significance
rs1387236642:191,840,586G/T—uncertain significance
rs1924625362:191,840,624A/G—likely benign
rs21249999192:191,841,548C/A—likely benign
rs21250000142:191,841,558C/T—likely benign
rs7575289492:191,841,561C/T—uncertain significance
rs13964585442:191,841,566C/G—uncertain significance
rs7815370752:191,841,591T/G—likely benign
rs350985792:191,841,606T/C—benign
rs5877777042:191,841,607T/Cmissense variantpathogenic
rs24704180602:191,841,609G/T—uncertain significance
rs24704180842:191,841,614T/C—uncertain significance
rs21250002682:191,841,616T/C—uncertain significance
rs7716794192:191,841,622T/A—uncertain significance
rs16919490582:191,841,633C/G—likely benign
rs21250003842:191,841,649A/G—uncertain significance
rs24704182582:191,841,651A/C—uncertain significance
rs24704182642:191,841,652T/C—pathogenic
rs15746384292:191,841,658G/A—uncertain significance
rs9235944252:191,841,660A/C—likely benign
rs7764295572:191,841,676T/C—uncertain significance
rs12451761832:191,841,679C/T—uncertain significance
rs3698766742:191,841,683T/C—uncertain significance
rs7592658162:191,841,714T/C—likely benign
rs5877777052:191,841,716T/Cmissense variantpathogenic
rs7641414802:191,841,720C/T—likely benign

Showing 100 of 560 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.