RAD51 Chromosome 15
RAD51 recombinase
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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
RS121917739
Conflicting classifications of pathogenicity
Familial cancer of breast, Hereditary cancer, RAD51-related disorder
Health Risk
RS142701178
Conflicting classifications of pathogenicity
Hereditary cancer, RAD51-related disorder, Hereditary cancer
Health Risk
RS1896717353
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS544409089
Conflicting classifications of pathogenicity
Health Risk
RS745659621
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS752351863
Conflicting classifications of pathogenicity
Health Risk
RS1555429629
Likely pathogenic
Fanconi anemia complementation group R, Fanconi anemia complementation group R
Health Risk
RS1555429670
Likely pathogenic
Health Risk
RS2504406488
Likely pathogenic
RAD51-related disorder, RAD51-related disorder
Health Risk
RS2504524090
Likely pathogenic
Fanconi anemia complementation group R, Fanconi anemia complementation group R
Health Risk
RS2504532073
Likely pathogenic
Fanconi anemia complementation group R, Fanconi anemia complementation group R
Health Risk
RS1555429623
Pathogenic
Mirror movements 2, Mirror movements 2
Health Risk
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 |