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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).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
5892 17 17q12 NM_002878 Unknown

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A143T missense unknown RAD51D A143T does not lie within any known functional domains of the Rad51d protein (UniProt.org). A143T has not been characterized in the scientific literature and therefore, its effect on Rad51d protein function is unknown (PubMed, Oct 2024).
A152D missense unknown RAD51D A152D does not lie within any known functional domains of the Rad51d protein (UniProt.org). A152D has not been characterized in the scientific literature and therefore, its effect on Rad51d protein function is unknown (PubMed, Jun 2024).
A34V missense unknown RAD51D A34V lies within the region of the Rad51d protein that preferentially binds ssDNA (UniProt.org). A34V binds Xrcc2 at similar levels to wild-type Rad51d (PMID: 28864920), but has not been fully biochemically characterized and therefore, its effect on Rad51d protein function is unknown.
amp none no effect RAD51D amplification indicates an increased number of copies of the RAD51D gene. However, the mechanism causing the increase is unspecified.
C119R missense unknown RAD51D C119R does not lie within any known functional domains of the Rad51d protein (UniProt.org). C119R has been identified in the scientific literature (PMID: 22415235, PMID: 24130102), but has not been biochemically characterized and therefore, its effect on Rad51d protein function is unknown (PubMed, Oct 2024).
C9S missense unknown RAD51D C9S lies within the region of the Rad51d protein that preferentially binds ssDNA (UniProt.org). C9S has been identified in the scientific literature (PMID: 22986143, PMID: 21822267, PMID: 25340522), but has not been biochemically characterized and therefore, its effect on Rad51d protein function is unknown (PubMed, Jun 2024).
D206A missense loss of function RAD51D D206A lies within the Walker B motif region of the Rad51d protein (PMID: 30836272). D206A fails to restore mitomycin sensitivity in cell culture (PMID: 16717288), and demonstrates reduced ability to bind Xrcc2 and Rad51c in yeast and in cell culture assays (PMID: 16717288, PMID: 28646019).
D90G missense unknown RAD51D D90G does not lie within any known functional domains of the Rad51d protein (UniProt.org). D90G demonstrates impaired Xrcc2 binding in culture (PMID: 30836272), but has not been fully biochemically characterized and therefore, its effect on Rad51d protein function is unknown.
del deletion loss of function RAD51D del indicates a deletion of the RAD51D gene.
E157* nonsense loss of function - predicted RAD51D E157* results in a premature truncation of the Rad51d protein at amino acid 157 of 328 (UniProt.org). E157* has not been characterized however, due to the effects of other truncation mutations downstream of E157 (PMID: 33151324), is predicted to lead to a loss of Rad51d protein function.
E233G missense unknown RAD51D E233G lies within the ATPase domain of the Rad51d protein (PMID: 28646019). E233G results in homologous recombination-mediated DNA repair activity similar to wild-type Rad51d in cell culture (PMID: 28646019), but in another study, results in increased cell proliferation and telomere maintenance dysfunction in culture (PMID: 19033885), and therefore, its effect on Rad51d protein function is unknown.
E37* nonsense loss of function - predicted RAD51D E37* results in a premature truncation of the Rad51d protein at amino acid 37 of 328 (UniProt.org). Due to the loss of the ATP-binding domain (UniProt.org), E37* is predicted to lead to a loss of Rad51d protein function.
G107V missense loss of function RAD51D G107V lies within the Walker A motif region of the Rad51d protein (PMID: 30836272). G107V results in reduced homologous recombination, impaired Xrcc2 binding compared to wild-type Rad51d in culture, and reduced binding with Rad51c and Xrcc2 in yeast (PMID: 30836272).
G110S missense unknown RAD51D G110S lies within the Walker A motif region of the Rad51d protein (PMID: 30836272). G110S has not been characterized in the scientific literature and therefore, its effect on Rad51d protein function is unknown (PubMed, Jun 2024).
G112A missense loss of function RAD51D G112A lies within the Walker A motif region of the Rad51d protein (PMID: 30836272). G112A fails to restore mitomycin-induced DNA damage in culture and demonstrates reduced ability to interact with Xrcc2 and Rad51c in yeast assays (PMID: 16236763).
G112del deletion unknown RAD51D G112del results in the deletion of an amino acid in the Walker A motif region of the Rad51d protein at amino acid 112 (PMID: 30836272). G112del demonstrates reduced ability to interact with Xrcc2 and Rad51c in yeast assays, and fails to restore mitomycin-induced DNA damage in combination with K113del in cell culture (PMID: 16236763), but has not been individually characterized and therefore, its effect on Rad51d protein function is unknown.
G258Sfs*50 frameshift unknown RAD51D G258Sfs*50 indicates a shift in the reading frame starting at amino acid 258 and terminating 50 residues downstream causing a premature truncation of the 328 amino acid Rad51d protein (UniProt.org). G258Sfs*50 has been identified in the scientific literature (PMID: 28588062), but has not been biochemically characterized and therefore, its effect on Rad51d protein function is unknown (PubMed, Jun 2024).
G96C missense loss of function RAD51D G96C does not lie within any known functional domains of the Rad51d protein (UniProt.org). G96C results in reduced homologous recombination, impaired Xrcc2 binding compared to wild-type Rad51d in culture, and reduced binding with Rad51c and Xrcc2 in yeast (PMID: 30836272).
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.
K113A missense unknown RAD51D K113A lies within the Walker A motif region of the Rad51d protein (PMID: 30836272). The functional effect of K113A is conflicting, as it restores mitomycin sensitivity and retains the ability to interact with Xrcc2 similar to wild-type Rad51d (PMID: 16717288, PMID: 16236763), however, demonstrates decreased Rad51c binding, reduced homologous recombination repair ability, and failure to restore mitomycin-induced DNA damage in cell culture (PMID: 16236763, PMID: 16717288, PMID: 30836272), and therefore, its effect on Rad51d protein function is unknown.
K113del deletion unknown RAD51D K113del results in the deletion of an amino acid in the Walker A motif region of the Rad51d protein at amino acid 113 (PMID: 30836272). K113del demonstrates reduced ability to interact with Xrcc2 and Rad51c in yeast assays, and fails to restore mitomycin-induced DNA damage in combination with G112del in cell culture (PMID: 16236763), but has not been individually characterized and therefore, its effect on Rad51d protein function is unknown.
K113R missense unknown RAD51D K113R lies within the Walker A motif region of the Rad51d protein (PMID: 30836272). The functional effect of K113R is conflicting, as it restores mitomycin sensitivity and retains the ability to interact with Xrcc2 similar to wild-type Rad51d (PMID: 16717288, PMID: 16236763), however, fails to restore mitomycin-induced DNA damage, and demonstrates reduced homologous recombination repair ability, and decreased binding to Rad51c in cell culture (PMID: 16236763, PMID: 16717288, PMID: 30836272), and therefore, its effect on Rad51d protein function is unknown.
K76N missense unknown RAD51D K76N lies within the region of the Rad51d protein that preferentially binds ssDNA (UniProt.org). K76N has not been characterized in the scientific literature and therefore, its effect on Rad51d protein function is unknown (PubMed, Jun 2024).
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).
K91Ifs*13 frameshift loss of function - predicted RAD51D K91Ifs*13 indicates a shift in the reading frame starting at amino acid 91 and terminating 13 residues downstream causing a premature truncation of the 328 amino acid Rad51d protein (UniProt.org). K91Ifs*13 results in similar levels of migration compared to wild-type Rad51d but fails to inhibit cell proliferation and results in increased sensitivity to PARP inhibitors in Rad51d knock-out cells in culture (PMID: 38905575), and therefore, is predicted to lead to a loss of Rad51d protein function.
L215Tfs*112 frameshift unknown RAD51D L215Tfs*112 indicates a shift in the reading frame starting at amino acid 215 and terminating 112 residues downstream causing a premature truncation of the 328 amino acid Rad51d protein (UniProt.org). L215Tfs*112 has not been characterized in the scientific literature and therefore, its effect on Rad51d protein function is unknown (PubMed, Jun 2024).
loss unknown loss of function RAD51D loss indicates loss of the RAD51D gene, mRNA or protein.
mutant unknown unknown RAD51D mutant indicates an unspecified mutation in the RAD51D gene.
Q41* nonsense loss of function - predicted RAD51D Q41* results in a premature truncation of the Rad51d protein at amino acid 41 of 328 (UniProt.org). Due to the loss of the ATP-binding domain (UniProt.org), Q41* is predicted to lead to a loss of Rad51d protein function.
R253Q missense unknown RAD51D R253Q does not lie within any known functional domains of the Rad51d protein (UniProt.org). R253Q has not been characterized in the scientific literature and therefore, its effect on Rad51d protein function is unknown (PubMed, Jun 2024).
S111T missense no effect - predicted RAD51D S111T lies within the Walker A motif region of the Rad51d protein (PMID: 30836272). S111T retains the ability to interact with Xrcc2 and Rad51c in yeast assays, and restores mitomycin-induced DNA damage similar to wild-type Rad51d in cell culture (PMID: 16236763), and therefore, is predicted to have no effect on Rad51d protein function.
S207L missense loss of function RAD51D S207L lies within the Walker B motif of the Rad51d protein (PMID: 28646019). S207L results in impaired homologous recombination, as demonstrated by disruption of the interaction between Rad51d and Xrcc2 and decreased Rad50 accumulation in response to DNA damage in cultured cells (PMID: 28646019).
S257_R259delinsK indel no effect RAD51D S257_R259delinsK results in a deletion of three amino acids combined with the insertion of a lysine (K) in the same location (UniProt.org). S257_R259delinsK, described as a reversion mutation, has no effect on Rad51d protein function, as demonstrated by restoration of homologous recombination function in cultured cells, and is associated with acquired resistance to PARP inhibitors (PMID: 28588062). Y
S298Y missense unknown RAD51D S298Y does not lie within any known functional domains of the Rad51d protein (UniProt.org). S298Y has not been characterized in the scientific literature and therefore, its effect on Rad51d protein function is unknown (PubMed, Jun 2024).
S33F missense unknown RAD51D S33F lies within the region of the Rad51d protein that preferentially binds ssDNA (UniProt.org). S33F has not been characterized in the scientific literature and therefore, its effect on Rad51d protein function is unknown (PubMed, Oct 2024).
V200* nonsense loss of function RAD51D V200* results in a premature truncation of the Rad51d protein at amino acid 200 of 328 (UniProt.org). V200* 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).
V203E missense loss of function RAD51D V203E lies within the Walker B motif region of the Rad51d protein (PMID: 30836272). V203E fails to restore mitomycin sensitivity in cell culture and demonstrates reduced ability to bind Xrcc2 and Rad51c in yeast assays (PMID: 16717288).