STAT4

signal transducer and activator of transcription 4

Summary

The protein encoded by this gene is a member of the STAT family of transcription factors. 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. This protein is essential for mediating responses to IL12 in lymphocytes, and regulating the differentiation of T helper cells. Mutations in this gene may be associated with systemic lupus erythematosus and rheumatoid arthritis. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Aug 2011]

Known Variants355 total

rsidPosition (GRCh37)AllelesClassClinVar
rs30249082:191,894,141T/Cdownstream gene variant—
rs24706278822:191,894,575A/G—likely benign
rs9243010552:191,895,688G/A—likely benign
rs21251340342:191,895,699G/A—uncertain significance
rs7578440952:191,895,701A/C—likely benign
rs14505182812:191,895,705T/G—uncertain significance
rs7796529852:191,895,710T/A—likely benign
rs9082769852:191,895,711G/T—uncertain significance
rs14303750042:191,895,715T/C—uncertain significance
rs1390306212:191,895,740C/T—likely benign
rs24706348532:191,895,744T/C—uncertain significance
rs13017513492:191,895,746C/A—likely benign
rs9898660072:191,895,767A/C—likely benign
rs12680877602:191,895,791T/C—likely benign
rs3702182982:191,895,804C/T—uncertain significance
rs24706351902:191,895,820C/T—likely benign
rs7631491212:191,895,822A/C—likely benign
rs16958793752:191,895,823G/C—likely benign
rs7810837682:191,896,158G/A—likely benign
rs5312083812:191,896,166C/T—likely benign
rs24706375382:191,896,177T/C—uncertain significance
rs9154857442:191,896,219C/G—uncertain significance
rs7680453852:191,896,223C/G—uncertain significance
rs7611556152:191,896,225T/C—uncertain significance
rs21251357432:191,896,257G/T—likely benign
rs30248972:191,896,564G/Cregulatory region variant—
rs30248962:191,896,716C/G——
rs9258472:191,897,540C/Tregulatory region variant—
rs3745463412:191,897,668A/G—likely benign
rs3689289902:191,897,688G/A—likely benign
rs7623432592:191,897,714C/T—uncertain significance
rs3681345912:191,897,715G/A—likely benign
rs7569055372:191,897,733A/G—likely benign
rs7672409272:191,897,745T/C—likely benign
rs7798256812:191,897,766A/G—likely benign
rs7492969682:191,897,769A/C—likely benign
rs14120861172:191,897,776T/A—uncertain significance
rs24706441082:191,897,779G/T—pathogenic
rs24706441412:191,897,791T/C—uncertain significance
rs24706441472:191,897,798C/T—uncertain significance
rs7590483812:191,897,801G/T—likely benign
rs11959050092:191,897,811A/G—likely benign
rs3697208962:191,897,814G/T—uncertain significance
rs24706442582:191,897,824G/A—likely pathogenic
rs1128192482:191,897,832C/A—likely benign
rs1490894132:191,897,833C/T—uncertain significance
rs24706443222:191,897,842T/C—uncertain significance
rs12126912392:191,897,852C/G—uncertain significance
rs12717239492:191,897,855C/T—uncertain significance
rs24706443862:191,897,861G/A—pathogenic
rs9620478092:191,897,871T/C—likely benign
rs7769870232:191,897,875C/T—uncertain significance
rs14766978342:191,897,882A/C—uncertain significance
rs24706445042:191,897,890A/G—likely benign
rs11860914582:191,898,200A/G—likely benign
rs7482652852:191,898,203A/G—likely benign
rs21251417562:191,898,206G/C—likely benign
rs16959585002:191,898,207A/C—likely benign
rs2015613082:191,898,210A/G—uncertain significance
rs21251417932:191,898,211T/C—uncertain significance
rs7816215862:191,898,256G/A—likely benign
rs24706464772:191,898,260T/C—uncertain significance
rs7703065542:191,898,278A/G—uncertain significance
rs7738103252:191,898,294G/C—uncertain significance
rs24706465962:191,898,307T/C—likely benign
rs30249332:191,898,318G/A—uncertain significance
rs24706467092:191,898,346G/C—likely benign
rs7595013482:191,898,360T/C—likely benign
rs12839421122:191,898,361A/G—likely benign
rs21251421582:191,898,366A/T—likely benign
rs21251429672:191,898,619A/T—likely benign
rs3728874982:191,898,622T/C—likely benign
rs7714801372:191,898,626C/T—likely benign
rs16959685162:191,898,632C/T—uncertain significance
rs5406284342:191,898,651G/A—likely benign
rs24706484202:191,898,652G/A—uncertain significance
rs21251430562:191,898,656G/T—uncertain significance
rs24706485412:191,898,672T/C—likely benign
rs3731919992:191,898,704A/G—uncertain significance
rs24706486362:191,898,706G/T—uncertain significance
rs7593786502:191,898,711T/C—likely benign
rs9984552292:191,898,713A/G—uncertain significance
rs7651780002:191,898,728G/A—uncertain significance
rs11714524152:191,898,734A/G—uncertain significance
rs13944146362:191,898,740A/G—likely benign
rs7526730862:191,898,745C/T—likely benign
rs24706489122:191,898,750A/C—likely benign
rs24706540872:191,899,254G/T—likely benign
rs3699299262:191,899,261C/T—likely benign
rs1908546352:191,899,262G/A—benign
rs21251457482:191,899,264C/T—likely benign
rs2007722412:191,899,265C/T—likely benign
rs1478509192:191,899,298G/A—likely benign
rs16959937682:191,899,302C/T—uncertain significance
rs7684456962:191,899,310G/A—likely benign
rs16959942192:191,899,313G/A—uncertain significance
rs24706545662:191,899,334A/G—uncertain significance
rs30248862:191,900,449G/Adownstream gene variant—
rs3772153122:191,900,872C/G—likely benign
rs2001704942:191,900,873T/C—likely benign

Showing 100 of 355 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.