BRWD1

bromodomain and WD repeat domain containing 1

Summary

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) residues which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 2 bromodomains and multiple WD repeats. This gene is located within the Down syndrome region-2 on chromosome 21. Alternative splicing of this gene generates multiple transcript variants encoding distinct isoforms. In mouse, this gene encodes a nuclear protein that has a polyglutamine-containing region that functions as a transcriptional activation domain which may regulate chromatin remodelling and associates with a component of the SWI/SNF chromatin remodelling complex.[provided by RefSeq, Jun 2011]

Known Variants171 total

rsidPosition (GRCh37)AllelesClassClinVar
rs37499637721:40,559,006A/T—uncertain significance
rs37617335321:40,559,010A/G—uncertain significance
rs132011462921:40,559,028T/G—uncertain significance
rs77961284021:40,559,040T/C—uncertain significance
rs20117391021:40,559,098A/C—uncertain significance
rs77238773121:40,559,182T/C—uncertain significance
rs155584274921:40,559,220C/T—uncertain significance
rs76202463921:40,559,221G/A—uncertain significance
rs14677819521:40,559,329C/T—likely benign
rs283693421:40,564,885A/Cintron variant—
rs37435269521:40,568,299A/C—likely benign
rs75330133621:40,568,468G/A—uncertain significance
rs14173452821:40,568,475T/C—uncertain significance
rs14132424921:40,568,476A/G—likely benign
rs223454821:40,568,528T/C—likely benign
rs57256299421:40,568,576A/G—benign
rs251685672121:40,568,593T/A—uncertain significance
rs14738434121:40,568,602C/T—likely benign
rs7335782421:40,568,847T/C—benign
rs20162009521:40,568,876G/T—uncertain significance
rs118439903821:40,568,975G/A—uncertain significance
rs6174265821:40,569,102G/A—likely benign
rs37135306821:40,569,140T/C—uncertain significance
rs101742598621:40,569,147A/C—uncertain significance
rs75127549121:40,569,161A/G—likely benign
rs76354983821:40,569,167C/T—uncertain significance
rs74636854421:40,569,209C/T—uncertain significance
rs251686009521:40,569,329T/C—uncertain significance
rs215041021:40,569,779G/Aintron variant—
rs76358732221:40,570,707G/C—uncertain significance
rs11814704621:40,570,737A/C—conflicting classifications of pathogenicity
rs57055150321:40,570,763G/A—likely benign
rs14721185421:40,570,769T/A—likely pathogenic
rs145022146821:40,570,811G/C—uncertain significance
rs75295144821:40,570,838C/T—uncertain significance
rs77890189021:40,570,874T/C—uncertain significance
rs75822075821:40,570,882A/C—uncertain significance
rs74682185421:40,570,886A/T—uncertain significance
rs11376056921:40,570,890T/C—likely benign
rs203196719921:40,570,911T/C—uncertain significance
rs37666819921:40,570,913G/A—likely benign
rs18605750421:40,570,959G/A—uncertain significance
rs20217883821:40,571,019G/A—uncertain significance
rs57342479321:40,571,097T/C—uncertain significance
rs54249438021:40,571,114G/A—uncertain significance
rs76316764821:40,571,159A/C—uncertain significance
rs14963262721:40,571,163G/A—uncertain significance
rs102248436421:40,571,190T/C—likely benign
rs104143921:40,571,246A/G—benign
rs75274657121:40,571,319A/G—likely benign
rs251686666021:40,571,474C/T—uncertain significance
rs37483980621:40,571,478C/G—uncertain significance
rs251686871821:40,572,181T/C—uncertain significance
rs13812301721:40,572,256A/T—likely benign
rs13979708921:40,572,282G/C—uncertain significance
rs14308950021:40,572,286T/C—uncertain significance
rs14818406521:40,572,294G/C—uncertain significance
rs14116713821:40,572,297T/C—uncertain significance
rs7865534421:40,572,304C/T—benign
rs218357321:40,574,305A/G—benign
rs77994137221:40,574,362T/A—uncertain significance
rs203215757121:40,574,364T/C—uncertain significance
rs77578217621:40,574,398T/C—uncertain significance
rs15000258421:40,574,418A/G—uncertain significance
rs148094050721:40,574,428G/A—uncertain significance
rs14429528821:40,574,434C/T—benign
rs75479475421:40,574,453C/A—uncertain significance
rs813196521:40,575,426G/T——
rs14784770021:40,578,076C/T—uncertain significance
rs11546295021:40,578,112T/C—uncertain significance
rs37642982521:40,578,174A/C—likely benign
rs251689640821:40,581,995G/A—uncertain significance
rs18256859521:40,582,011C/T—likely benign
rs203259006121:40,582,027C/T—uncertain significance
rs203259238821:40,582,072T/A—uncertain significance
rs76957708621:40,582,788T/A—uncertain significance
rs37277118121:40,582,821T/C—likely benign
rs7504657221:40,582,823C/T—benign
rs75776245821:40,582,842T/C—uncertain significance
rs37731392421:40,582,852G/A—not provided
rs54662793521:40,582,854A/T—uncertain significance
rs133706521521:40,585,463T/C—uncertain significance
rs7865742121:40,585,488C/G—benign
rs75038333121:40,587,272C/T—likely benign
rs14346862421:40,587,284G/A—likely benign
rs1248231721:40,588,241A/Gupstream gene variant—
rs481800521:40,588,819G/T——
rs7973038821:40,590,068T/G—benign
rs76725610921:40,590,093A/G—uncertain significance
rs145870015321:40,590,094C/A—uncertain significance
rs37479687821:40,590,123G/A—uncertain significance
rs7617132321:40,590,176G/T—benign
rs20144199921:40,590,198T/C—uncertain significance
rs251692711321:40,590,487G/A—uncertain significance
rs103030633221:40,601,239T/C—uncertain significance
rs77871164121:40,601,257C/T—uncertain significance
rs6173949021:40,601,259A/G—likely benign
rs7390615421:40,601,267T/C—likely benign
rs251695890921:40,601,311T/G—uncertain significance
rs20166535421:40,601,323C/T—uncertain significance

Showing 100 of 171 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.