Gene Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@jax.org

Gene Symbol RAD51D
Synonyms BROVCA4 | R51H3 | RAD51L3 | TRAD
Gene Description RAD51D, RAD51 paralog D, functions in homologous recombination in DNA repair and plays a role in telomere maintenance (PMID: 21821141, PMID: 23108668). Mutations in RAD51D are associated with increased susceptibility to ovarian cancer (PMID: 23372765, PMID: 21822267).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
5892 17 17q12 NM_002878 Unknown

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Variant Impact Protein Effect Variant Description Associated with drug Resistance
inact mut unknown loss of function RAD51D inact mut indicates that this variant results in a loss of function of the Rad51d protein. However, the specific amino acid change has not been identified.
K91fs frameshift loss of function RAD51D K91fs results in a change in the amino acid sequence of the Rad51d protein beginning at aa 91 of 328, likely resulting in premature truncation of the functional protein (UniProt.org). K91fs results in decreased Rad51d protein stability, impaired DNA homologous recombination activity and DNA damage response, and increased sensitivity to PARP inhibitors in culture (PMID: 33151324).
mutant unknown unknown RAD51D mutant indicates an unspecified mutation in the RAD51D gene.