SMARCA4

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4

Summary

The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. In addition, this protein can bind BRCA1, as well as regulate the expression of the tumorigenic protein CD44. Mutations in this gene cause rhabdoid tumor predisposition syndrome type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]

Known Variants3,941 total

rsidPosition (GRCh37)AllelesClassClinVar
rs480455119:11,071,560G/T—benign
rs55914400219:11,071,810C/T—likely benign
rs57498289819:11,071,839C/T—likely benign
rs88605415019:11,071,861C/T—uncertain significance
rs54203248719:11,071,879C/T—likely benign
rs135124923019:11,071,884C/T—uncertain significance
rs53114541519:11,071,918G/A—likely benign
rs1187929319:11,072,610G/C——
rs1166913319:11,092,139G/Aregulatory region variant—
rs6647084119:11,094,591C/T—likely benign
rs77522369619:11,094,789T/G—uncertain significance
rs159992766419:11,094,791T/C—uncertain significance
rs159992787819:11,094,823T/G—uncertain significance
rs214572004519:11,094,830G/A—uncertain significance
rs155575057019:11,094,833C/T—likely benign
rs159992793019:11,094,834A/C—uncertain significance
rs133994177919:11,094,835C/T—uncertain significance
rs76463938919:11,094,836T/C—likely benign
rs208580150319:11,094,837C/T—uncertain significance
rs214572027719:11,094,838C/A—uncertain significance
rs214572030819:11,094,839A/C—likely benign
rs214572033119:11,094,840G/C—uncertain significance
rs130982597519:11,094,842C/T—likely benign
rs75011305619:11,094,844C/A—uncertain significance
rs251393178819:11,094,845A/G—likely benign
rs76262534619:11,094,846C/A—uncertain significance
rs156841656919:11,094,847C/A—uncertain significance
rs208580274319:11,094,848C/G—likely benign
rs155575059619:11,094,849C/A—uncertain significance
rs155575059919:11,094,851G/C—likely benign
rs156841660919:11,094,852G/A—uncertain significance
rs214572065019:11,094,853G/A—uncertain significance
rs37210292919:11,094,854C/T—likely benign
rs14017694519:11,094,855G/A—uncertain significance
rs106050206719:11,094,858A/G—uncertain significance
rs156841666519:11,094,859C/T—uncertain significance
rs155575062419:11,094,860T/C—likely benign
rs214572095319:11,094,861C/T—uncertain significance
rs120181244119:11,094,862C/T—uncertain significance
rs214572103119:11,094,863T/C—likely benign
rs156841670019:11,094,864C/T—uncertain significance
rs14395008419:11,094,865G/A—conflicting classifications of pathogenicity
rs77841227419:11,094,866G/T—conflicting classifications of pathogenicity
rs75429133719:11,094,867C/A—uncertain significance
rs159992842919:11,094,869A/G—likely benign
rs214572127019:11,094,870G/A—uncertain significance
rs106050207719:11,094,871G/T—uncertain significance
rs214572134519:11,094,872T/A—likely benign
rs251393288119:11,094,874C/G—uncertain significance
rs208580632119:11,094,877C/T—uncertain significance
rs143823307119:11,094,878C/T—likely benign
rs106050208719:11,094,880C/T—conflicting classifications of pathogenicity
rs52963222219:11,094,881G/A—likely benign
rs214572164019:11,094,882G/C—uncertain significance
rs122254209319:11,094,883G/C—uncertain significance
rs77879598619:11,094,884C/G—likely benign
rs214572190619:11,094,890C/T—likely benign
rs208580780519:11,094,891C/T—uncertain significance
rs122765933419:11,094,892C/G—uncertain significance
rs214572201419:11,094,893T/C—likely benign
rs155575071219:11,094,895C/A—uncertain significance
rs77265869819:11,094,896C/T—likely benign
rs106050205719:11,094,897C/G—conflicting classifications of pathogenicity
rs77223002619:11,094,898C/G—uncertain significance
rs78022395719:11,094,899T/C—likely benign
rs156841688719:11,094,900G/A—uncertain significance
rs214572235119:11,094,902A/T—likely benign
rs14586750219:11,094,903G/A—conflicting classifications of pathogenicity
rs159992884519:11,094,904C/T—uncertain significance
rs214572244919:11,094,905C/A—likely benign
rs76832817519:11,094,906A/G—conflicting classifications of pathogenicity
rs214572253919:11,094,907T/C—uncertain significance
rs77668870519:11,094,909C/A—uncertain significance
rs214572279919:11,094,913G/A—uncertain significance
rs133070607419:11,094,914C/A—likely benign
rs159992896819:11,094,915C/T—uncertain significance
rs214572289319:11,094,916C/T—uncertain significance
rs214572292619:11,094,917T/C—likely benign
rs130402603119:11,094,921C/T—uncertain significance
rs91009500119:11,094,922C/T—conflicting classifications of pathogenicity
rs76159701319:11,094,923G/A—likely benign
rs106050209619:11,094,924G/C—uncertain significance
rs251393502919:11,094,925G/T—uncertain significance
rs214572318219:11,094,926T/G—likely benign
rs208581163119:11,094,928C/G—uncertain significance
rs76934988119:11,094,929C/T—likely benign
rs56307962919:11,094,931C/T—conflicting classifications of pathogenicity
rs76253168719:11,094,932G/A—likely benign
rs155575079419:11,094,933C/T—uncertain significance
rs76617647619:11,094,934C/T—uncertain significance
rs37231351619:11,094,935G/A—conflicting classifications of pathogenicity
rs208581298819:11,094,936G/A—uncertain significance
rs208581318519:11,094,937G/A—uncertain significance
rs159992930619:11,094,938C/T—likely benign
rs159992932519:11,094,939T/C—uncertain significance
rs214572365019:11,094,940C/T—uncertain significance
rs14897051719:11,094,941C/T—likely benign
rs76431240919:11,094,942G/T—uncertain significance
rs214572373119:11,094,943C/T—uncertain significance
rs214572379219:11,094,945C/T—uncertain significance

Showing 100 of 3,941 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.