RAD51

RAD51 recombinase

Summary

The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51, and are known to be involved in the homologous recombination and repair of DNA. This protein can interact with the ssDNA-binding protein RPA and RAD52, and it is thought to play roles in homologous pairing and strand transfer of DNA. This protein is also found to interact with BRCA1 and BRCA2, which may be important for the cellular response to DNA damage. BRCA2 is shown to regulate both the intracellular localization and DNA-binding ability of this protein. Loss of these controls following BRCA2 inactivation may be a key event leading to genomic instability and tumorigenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]

Known Variants363 total

rsidPosition (GRCh37)AllelesClassClinVar
rs261967915:40,986,237T/Acoding sequence variant—
rs503078915:40,986,355A/Ccoding sequence variant—
rs3572240615:40,987,418G/C—benign
rs3444544415:40,987,419C/T—benign
rs180132015:40,987,528G/Cregulatory region variantrisk factor
rs180132115:40,987,565G/Tregulatory region variantbenign
rs309298115:40,987,725T/C—benign
rs292814015:40,990,353G/Cupstream gene variant—
rs214181376815:40,990,962A/C—likely benign
rs75179227615:40,990,963A/G—uncertain significance
rs37477698615:40,990,964T/C—uncertain significance
rs250440618515:40,990,965G/A—uncertain significance
rs214181381515:40,990,966C/A—uncertain significance
rs250440624215:40,990,971G/T—uncertain significance
rs189481085815:40,990,976T/C—uncertain significance
rs250440631615:40,990,984A/G—uncertain significance
rs128669291915:40,990,988C/G—uncertain significance
rs133715350415:40,990,989A/C—likely benign
rs124601894815:40,990,991A/G—uncertain significance
rs250440644015:40,990,999G/C—uncertain significance
rs250440646415:40,991,004A/G—likely benign
rs75513263215:40,991,011A/G—uncertain significance
rs214181393915:40,991,019C/T—likely benign
rs74814826415:40,991,025A/G—likely benign
rs250440657915:40,991,026C/G—uncertain significance
rs189481321315:40,991,027C/T—uncertain significance
rs137561870515:40,991,028C/G—likely benign
rs75671338015:40,991,035C/T—uncertain significance
rs77813208115:40,991,036G/T—uncertain significance
rs145752148815:40,991,040A/G—likely benign
rs148959305015:40,991,042A/G—uncertain significance
rs74966945815:40,991,060T/C—likely benign
rs230457915:40,991,153A/G—benign
rs803130615:40,991,333G/A—likely benign
rs250441440015:40,993,264G/A—likely benign
rs250441446715:40,993,268G/T—uncertain significance
rs75137902715:40,993,275A/C—uncertain significance
rs37757159115:40,993,278C/A—uncertain significance
rs14574538815:40,993,279C/T—likely benign
rs20143787615:40,993,282C/T—likely benign
rs142898721615:40,993,283G/A—uncertain significance
rs75609223215:40,993,284A/T—uncertain significance
rs250441459215:40,993,285T/C—likely benign
rs74974264715:40,993,295T/A—uncertain significance
rs250441467015:40,993,296T/G—uncertain significance
rs250441473415:40,993,305C/T—uncertain significance
rs189495932215:40,993,306T/C—likely benign
rs250441475715:40,993,307G/A—uncertain significance
rs129874249515:40,993,312C/G—uncertain significance
rs76841147715:40,993,314A/G—not provided
rs214181922515:40,993,317C/A—uncertain significance
rs14052456615:40,993,318T/C—likely benign
rs214181930915:40,993,332C/G—uncertain significance
rs76914610915:40,993,335A/G—uncertain significance
rs144806789415:40,993,336T/C—likely benign
rs14561714215:40,993,338C/T—likely benign
rs76303407115:40,993,339G/A—likely benign
rs4562383815:40,993,340C/T—benign
rs189496306815:40,993,341C/T—uncertain significance
rs144862526515:40,993,344A/G—uncertain significance
rs250441525515:40,993,359A/G—uncertain significance
rs142709363015:40,993,363T/G—uncertain significance
rs250441533115:40,993,372T/C—likely benign
rs116339925315:40,993,374G/A—uncertain significance
rs250441539015:40,993,378A/C—uncertain significance
rs14305595315:40,993,379G/C—uncertain significance
rs250441544715:40,993,384A/G—likely benign
rs250441549215:40,993,388G/T—uncertain significance
rs116406200315:40,993,389A/C—uncertain significance
rs492449515:40,993,710C/T—benign
rs4562363115:40,993,713C/T—likely benign
rs4557403715:40,993,825G/T—likely benign
rs14898164815:40,994,006G/A—likely benign
rs53919700815:40,994,014G/A—uncertain significance
rs159598100915:40,994,032A/C—uncertain significance
rs18719698115:40,994,067C/T—likely benign
rs250442063615:40,994,084T/C—likely benign
rs103849134015:40,994,107G/A—uncertain significance
rs55281034015:40,994,115G/A—uncertain significance
rs18073278615:40,994,118A/C—benign
rs4559273415:40,998,305T/A—benign
rs4545749715:40,998,342T/G—benign
rs250443624115:40,998,376C/G—uncertain significance
rs250443624615:40,998,377T/G—likely benign
rs121884363215:40,998,379A/G—uncertain significance
rs105067180015:40,998,382C/T—uncertain significance
rs250443630415:40,998,384G/C—uncertain significance
rs14648954215:40,998,385C/T—uncertain significance
rs131215776215:40,998,387A/G—uncertain significance
rs75193024115:40,998,388A/C—uncertain significance
rs250443633015:40,998,391T/C—uncertain significance
rs136703958815:40,998,393G/A—uncertain significance
rs250443637115:40,998,397C/G—uncertain significance
rs250443637815:40,998,398A/T—likely benign
rs75577844215:40,998,399A/G—uncertain significance
rs77756164615:40,998,403G/A—uncertain significance
rs250443643315:40,998,407C/T—likely benign
rs189532847715:40,998,410C/T—likely benign
rs214183028615:40,998,412C/G—uncertain significance
rs174199540215:40,998,413T/C—likely benign

Showing 100 of 363 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.