BTAF1

B-TFIID TATA-box binding protein associated factor 1

Summary

This gene encodes a TAF (TATA box-binding protein-associated factor), which associates with TBP (TATA box-binding protein) to form the B-TFIID complex that is required for transcription initiation of genes by RNA polymerase II. This TAF has DNA-dependent ATPase activity, which drives the dissociation of TBP from DNA, freeing the TBP to associate with other TATA boxes or TATA-less promoters. [provided by RefSeq, Sep 2011]

Known Variants132 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1050964010:93,684,146G/C—benign
rs7282318510:93,695,310C/T—benign
rs1224125610:93,699,649C/T—benign
rs77111874310:93,699,717A/G—uncertain significance
rs1256973610:93,701,973T/A—benign
rs76561755510:93,702,181C/G—uncertain significance
rs381464010:93,702,405C/T—benign
rs381463910:93,702,443G/A—benign
rs11770402210:93,711,000T/A—benign
rs75395221810:93,711,196G/A—uncertain significance
rs14346570910:93,711,300G/T—uncertain significance
rs1074857410:93,713,363A/G—benign
rs1257156410:93,713,405T/G—benign
rs1118676810:93,713,758G/T—benign
rs1276360010:93,713,807A/G—benign
rs253979346010:93,716,314A/G—uncertain significance
rs77887544010:93,716,358A/T—uncertain significance
rs1226235210:93,716,591T/C—benign
rs493370610:93,716,784A/G—benign
rs789457010:93,716,899G/C—benign
rs7282319110:93,717,189C/T—benign
rs20030771410:93,718,889T/C—uncertain significance
rs1277466510:93,719,087G/T—benign
rs1226697410:93,719,267C/T—benign
rs304736110:93,719,499A/G—benign
rs36941383810:93,719,501A/G—benign
rs37175816610:93,719,503A/G—benign
rs39804636610:93,719,505A/G—benign
rs79700034010:93,719,507A/G—benign
rs56608277710:93,719,509A/G—benign
rs11642224210:93,719,531T/C—benign
rs76032539710:93,719,618G/A—uncertain significance
rs136588343710:93,719,780G/A—uncertain significance
rs7282319210:93,720,144T/C—benign
rs7414933410:93,720,198C/T—benign
rs1118677110:93,721,241A/Gintron variant—
rs134042110:93,722,199A/G—benign
rs13929133310:93,722,335T/C—uncertain significance
rs20043590510:93,722,410G/A—uncertain significance
rs14316872610:93,722,426G/C—uncertain significance
rs1276507010:93,722,751G/T—benign
rs78142142810:93,723,952A/C—uncertain significance
rs1088200910:93,724,201C/T—benign
rs7414933510:93,724,266G/A—benign
rs493322410:93,726,090C/T—benign
rs74602937210:93,726,492C/T—uncertain significance
rs77634118010:93,726,507A/G—uncertain significance
rs1277429510:93,727,581C/G——
rs267682210:93,731,617A/C——
rs267682010:93,735,370C/Gintron variant—
rs267681710:93,737,965A/Tintron variant—
rs267681410:93,738,650T/C——
rs279202210:93,740,429T/C—benign
rs129074772710:93,741,501T/G—uncertain significance
rs146077433810:93,741,924A/G—uncertain significance
rs20223618110:93,741,933C/T—uncertain significance
rs77464119010:93,741,939A/G—uncertain significance
rs14946142110:93,741,972A/G—uncertain significance
rs55029818410:93,742,365C/G—uncertain significance
rs75064266610:93,742,384G/A—uncertain significance
rs147405110:93,743,172G/A——
rs75001302310:93,749,082T/A—uncertain significance
rs7449073710:93,749,103T/C—benign
rs74600961810:93,749,129G/C—uncertain significance
rs15000580210:93,749,211A/G—uncertain significance
rs94222071710:93,749,250C/T—uncertain significance
rs76713832710:93,749,324G/A—likely benign
rs4128764610:93,749,380T/G—benign
rs7282530710:93,752,222A/G—benign
rs1181682110:93,752,313A/G—benign
rs14169596310:93,753,460C/G—uncertain significance
rs91288756310:93,753,466C/G—uncertain significance
rs121495157710:93,753,494C/G—uncertain significance
rs3458157610:93,753,553T/C—uncertain significance
rs76088178510:93,753,554G/T—uncertain significance
rs184896644010:93,753,578G/A—uncertain significance
rs707750610:93,754,097G/A—benign
rs1088201410:93,754,163G/A—benign
rs20112914710:93,754,378A/G—uncertain significance
rs83338410:93,754,543T/G—benign
rs77097277910:93,756,259A/C—uncertain significance
rs20005169610:93,756,261G/T—uncertain significance
rs1235886510:93,756,487T/G—benign
rs76572304110:93,757,417C/T—uncertain significance
rs56136886210:93,757,447A/G—uncertain significance
rs74671055810:93,757,449A/G—uncertain significance
rs37762545310:93,757,483C/T—uncertain significance
rs171184210:93,767,797G/A—benign
rs14944067710:93,767,891A/G—benign
rs254010515310:93,767,989A/G—uncertain significance
rs185006223710:93,768,000C/G—uncertain significance
rs156471354010:93,768,003A/C—uncertain significance
rs1118679410:93,768,096G/C—benign
rs299554510:93,768,362C/T—benign
rs99016120610:93,768,704A/G—uncertain significance
rs20034136310:93,768,953C/T—uncertain significance
rs791694210:93,770,768T/C—benign
rs121793034010:93,770,843G/C—uncertain significance
rs790056710:93,770,957C/G—benign
rs267680210:93,771,192T/A—benign

Showing 100 of 132 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.