RAD51C RAD51 paralog C
Gene ID: 5889, updated on 17-Jun-2024Gene type: protein coding
Also known as: FANCO; R51H3; BROVCA3; RAD51L2
- See all available tests in GTR for this gene
- Go to complete Gene record for RAD51C
- Go to Variation Viewer for RAD51C variants
Summary
This gene is a member of the RAD51 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 other RAD51 paralogs and is reported to be important for Holliday junction resolution. Mutations in this gene are associated with Fanconi anemia-like syndrome. This gene is one of four localized to a region of chromosome 17q23 where amplification occurs frequently in breast tumors. Overexpression of the four genes during amplification has been observed and suggests a possible role in tumor progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Breast-ovarian cancer, familial, susceptibility to, 3 | See labs |
| Fanconi anemia complementation group O | See labs |
| Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances. GeneReviews: Not available | |
| Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14. GeneReviews: Not available | |
| Meta-analysis identifies four new loci associated with testicular germ cell tumor. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2020-07-08) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-07-08) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 17q22
- Sequence:
- Chromosome: 17; NC_000017.11 (58692573..58735611)
- Total number of exons:
- 11
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for RAD51C variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RAD51C @ LOVD
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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