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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).


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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 ( 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.