RAD51D Chromosome 17
RAD51 paralog D
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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, which are known to be involved in the homologous recombination and repair of DNA. This protein forms a complex with several other members of the RAD51 family, including RAD51L1, RAD51L2, and XRCC2. The protein complex formed with this protein has been shown to catalyze homologous pairing between single- and double-stranded DNA, and is thought to play a role in the early stage of recombinational repair of DNA. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream ring finger and FYVE-like domain containing 1 (RFFL) gene. [provided by RefSeq, Jan 2011]
Gene Info
Gene Group
RAD51 paralogs
Locus Type
gene with protein product
Location
17q12
Ensembl
ENSG00000185379
Associated Conditions (30)
Breast-ovarian cancer
familial
susceptibility to
4
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Breast and/or ovarian cancer
RAD51D-related disorder
Hereditary cancer
RAD51D-related cancer predisposition
Familial ovarian cancer
Deleterious RAD51D Gene Mutation
Breast cancer
Lynch syndrome 1
Anaplastic/large cell medulloblastoma
Gastric cancer
Hereditary site-specific ovarian cancer syndrome
Cancer or benign tumor
Ovarian neoplasm
+10 more conditions
Key Variants
RS1002032036
Conflicting classifications of pathogenicity
Breast-ovarian cancer, familial, susceptibility to
Health Risk
RS1060502957
Conflicting classifications of pathogenicity
Breast-ovarian cancer, familial, susceptibility to
Health Risk
RS1064794619
Conflicting classifications of pathogenicity
Breast-ovarian cancer, familial, susceptibility to
Health Risk
RS1064795057
Conflicting classifications of pathogenicity
Breast-ovarian cancer, familial, susceptibility to
Health Risk
RS113147933
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial
Health Risk
RS115031549
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial
Health Risk
RS1169894160
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial
Health Risk
RS1185842552
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial
Health Risk
RS1210620444
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial
Health Risk
RS1210749655
Conflicting classifications of pathogenicity
Breast-ovarian cancer, familial, susceptibility to
Health Risk
RS1230625396
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial
Health Risk
RS1235042092
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial
Health Risk
All Variants (368)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2091622013 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial |
| RS2142411343 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2142411904 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2142418872 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2142418884 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial |
| RS2142420962 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2142421182 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2142428761 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2142428876 | Health Risk | Likely pathogenic | Deleterious RAD51D Gene Mutation, Deleterious RAD51D Gene Mutation |
| RS2142432010 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2142437431 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2142474934 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2142474941 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2142477116 | Health Risk | Likely pathogenic | Gastric cancer, Hereditary cancer-predisposing syndrome, Breast-ovarian cancer |
| RS2142480074 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2509124456 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2509124487 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2509124515 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2509124625 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2509124779 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2509125000 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2509125158 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2509130047 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2509130113 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2509137893 | Health Risk | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS2509185002 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2509188899 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2509189482 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2509189531 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS370228071 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial |
| RS786202788 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial |
| RS1057517586 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS1057521922 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS1060502951 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1064793952 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial |
| RS1064795913 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS137886232 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS1419080369 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial |
| RS148690585 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial |
| RS1555567197 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS1555567529 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS1555567586 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1555568296 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS1555568382 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS1555568473 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS1555570266 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial |
| RS1555570285 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Breast and/or ovarian cancer, Breast-ovarian cancer |
| RS1555570301 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS1555570506 | Health Risk | Pathogenic | Breast-ovarian cancer, familial, susceptibility to |
| RS1567727934 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |