BRIP1

BRCA1 interacting DNA helicase 1

Summary

The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations. [provided by RefSeq, Jul 2008]

Known Variants3,438 total

rsidPosition (GRCh37)AllelesClassClinVar
rs19184074317:59,756,604A/G—uncertain significance
rs11158045617:59,756,617A/T—conflicting classifications of pathogenicity
rs807755317:59,756,657A/G—benign
rs88605319517:59,756,733A/C—uncertain significance
rs88605319617:59,756,739G/A—uncertain significance
rs137751310417:59,756,830A/G—uncertain significance
rs88605319717:59,756,836T/C—uncertain significance
rs18323405817:59,756,902T/C—likely benign
rs54881263417:59,757,022A/G—uncertain significance
rs88605319817:59,757,040A/G—uncertain significance
rs37202359117:59,757,077A/T—uncertain significance
rs1074499617:59,757,143A/C—benign
rs14089119117:59,757,168A/G—conflicting classifications of pathogenicity
rs1107945417:59,757,169T/Adownstream gene variantbenign
rs57335155017:59,757,178T/C—likely benign
rs53941219917:59,757,192T/A—uncertain significance
rs7485984317:59,757,207A/G—benign
rs88605319917:59,757,350A/G—uncertain significance
rs18829274517:59,757,355C/A—likely benign
rs36985053717:59,757,469C/T—uncertain significance
rs88605320017:59,757,512T/C—uncertain significance
rs94457681117:59,757,564T/A—uncertain significance
rs137303339917:59,757,657G/C—uncertain significance
rs135731272617:59,757,658A/G—uncertain significance
rs88605320117:59,757,731A/T—uncertain significance
rs54994179517:59,757,749G/A—likely benign
rs104479174317:59,757,789T/C—uncertain significance
rs11237506217:59,757,845T/C—uncertain significance
rs18226450517:59,757,901C/T—uncertain significance
rs131117883817:59,757,913T/C—uncertain significance
rs88605320317:59,757,942G/A—uncertain significance
rs88605320417:59,757,965T/C—uncertain significance
rs88605320517:59,757,966G/C—uncertain significance
rs92448601217:59,757,985C/T—uncertain significance
rs88605320617:59,757,989C/T—uncertain significance
rs37315687217:59,757,990G/A—uncertain significance
rs105247748817:59,758,001T/C—uncertain significance
rs15008012217:59,758,119C/T—benign
rs88605320717:59,758,135T/C—uncertain significance
rs37366406617:59,758,320T/A—uncertain significance
rs7688959517:59,758,416A/G—benign
rs6065782017:59,758,567C/G—likely benign
rs76425852617:59,758,587C/T—uncertain significance
rs14026786817:59,758,693A/G—likely benign
rs206126734117:59,758,727C/G—uncertain significance
rs126491680217:59,758,749A/G—uncertain significance
rs18466643217:59,758,789C/A—uncertain significance
rs11403790217:59,758,837G/A—benign
rs147946818017:59,758,856A/C—uncertain significance
rs74686992017:59,758,865C/T—uncertain significance
rs55493364017:59,759,248A/T—uncertain significance
rs75469803917:59,759,264C/A—uncertain significance
rs88605320817:59,759,276C/A—uncertain significance
rs5911593317:59,759,283A/G—benign
rs93304993217:59,759,327G/A—uncertain significance
rs7399194017:59,759,394T/C—benign
rs104295845117:59,759,418G/T—uncertain significance
rs88605321017:59,759,757G/T—uncertain significance
rs13796772517:59,759,928G/A—likely benign
rs206128472417:59,759,973G/T—uncertain significance
rs76937596017:59,759,998C/T—uncertain significance
rs11629241217:59,760,041T/C—benign
rs206128562617:59,760,045T/C—uncertain significance
rs37168923617:59,760,133T/C—uncertain significance
rs721343017:59,760,174G/A3 prime UTR variantbenign
rs103055107117:59,760,180T/C—uncertain significance
rs88605321117:59,760,236G/A—uncertain significance
rs55672982617:59,760,277G/A—uncertain significance
rs88605321217:59,760,318C/G—uncertain significance
rs88605321317:59,760,369T/C—uncertain significance
rs18993519217:59,760,377C/G—benign
rs11189825717:59,760,485C/G—likely benign
rs197811117:59,760,499A/G—benign
rs54022969417:59,760,505C/A—likely benign
rs14336159817:59,760,525C/T—uncertain significance
rs15044431117:59,760,529T/C—conflicting classifications of pathogenicity
rs156772701217:59,760,640T/C—uncertain significance
rs105752310017:59,760,642G/C—likely benign
rs76020256917:59,760,643A/C—likely benign
rs105752429617:59,760,644G/A—likely benign
rs156772706017:59,760,651G/C—conflicting classifications of pathogenicity
rs206129494217:59,760,655T/A—uncertain significance
rs130400914117:59,760,656A/G—uncertain significance
rs214406545817:59,760,657T/C—likely benign
rs160327460217:59,760,658T/A—uncertain significance
rs126414926417:59,760,660C/T—likely benign
rs76357979317:59,760,664A/C—uncertain significance
rs156772710217:59,760,665A/G—uncertain significance
rs155557241317:59,760,666A/T—likely benign
rs214406574817:59,760,667C/T—uncertain significance
rs119605712917:59,760,668C/T—conflicting classifications of pathogenicity
rs87666007417:59,760,670G/A—conflicting classifications of pathogenicity
rs254455146917:59,760,673A/C—uncertain significance
rs75351600017:59,760,675C/T—uncertain significance
rs126081995917:59,760,676A/T—uncertain significance
rs73088164617:59,760,676——uncertain significance
rs76146887817:59,760,677T/G—uncertain significance
rs76554503317:59,760,679C/T—uncertain significance
rs58778025017:59,760,680C/A—uncertain significance
rs214406636317:59,760,681T/G—uncertain significance

Showing 100 of 3,438 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.