RAD51 Chromosome 15

RAD51 recombinase
16 variants 16 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
"FA complementation groups|RAD51 paralogs"
Locus Type
gene with protein product
Location
15q15.1
Ensembl
ENSG00000051180
Associated Conditions (7)
Familial cancer of breast
Hereditary cancer
RAD51-related disorder
Clear cell carcinoma of kidney
Inborn genetic diseases
Fanconi anemia complementation group R
Mirror movements 2
Key Variants
All Variants (16)
RSID Category Clinical Significance Conditions
RS121917739 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer, RAD51-related disorder
RS142701178 Health Risk Conflicting classifications of pathogenicity Hereditary cancer, RAD51-related disorder, Hereditary cancer
RS1896717353 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS544409089 Health Risk Conflicting classifications of pathogenicity
RS745659621 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752351863 Health Risk Conflicting classifications of pathogenicity
RS1555429629 Health Risk Likely pathogenic Fanconi anemia complementation group R, Fanconi anemia complementation group R
RS1555429670 Health Risk Likely pathogenic
RS2504406488 Health Risk Likely pathogenic RAD51-related disorder, RAD51-related disorder
RS2504524090 Health Risk Likely pathogenic Fanconi anemia complementation group R, Fanconi anemia complementation group R
RS2504532073 Health Risk Likely pathogenic Fanconi anemia complementation group R, Fanconi anemia complementation group R
RS1555429623 Health Risk Pathogenic Mirror movements 2, Mirror movements 2
RS1895530875 Health Risk Pathogenic Fanconi anemia complementation group R, Fanconi anemia complementation group R
RS199925463 Health Risk Pathogenic Mirror movements 2, Familial cancer of breast, Mirror movements 2
RS34091239 Health Risk Pathogenic Mirror movements 2, Mirror movements 2
RS1057519413 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group R, RAD51-related disorder, Inborn genetic diseases
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