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Gene Symbol RAD51C
Synonyms BROVCA3 | FANCO | R51H3 | RAD51L2
Gene Description RAD51C, RAD51 paralog C, functions in homologous recombination in DNA repair and plays a role in cell cycle checkpoint signaling in response to DNA damage (PMID: 21821141). Germline mutations in RAD51C are associated with increased susceptibility to breast and ovarian cancers (PMID: 21821141, PMID: 31446535) and overexpression of Rad51c has been observed in ovarian cancer (PMID: 32055267).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
5889 17 17q22 NM_058216 Unknown

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A126T missense no effect RAD51C A126T lies within the Rad51b, Rad51d, and Xrcc3-interaction region of the Rad51c protein (UniProt.org). A126T demonstrates rescue of mitomycin C hypersensitivity and Rad51 foci formation similar to wild-type Rad51c in culture (PMID: 20400964), binds to Rad51b, Rad51d, and Xrcc3 to similar levels of wild-type protein in a yeast assay, and demonstrates homologous recombination activity similar to wild-type Rad51c in cultured cells (PMID: 36099300).
A155E missense loss of function RAD51C A155E does not lie within any known functional domains of the Rad51c protein (UniProt.org). A155E results in loss of interaction with Xrcc2, Xrcc3, and Rad51d, decreased Rad51 foci formation, and reduced homology-directed DNA repair activity compared to wild-type Rad51c in culture (PMID: 37253112).
A155V missense unknown RAD51C A155V does not lie within any known functional domains of the Rad51c protein (UniProt.org). A155V has not been characterized in the scientific literature and therefore, its effect on Rad51c protein function is unknown (PubMed, Nov 2023).
A279D missense unknown RAD51C A279D does not lie within any known functional domains of the Rad51c protein (UniProt.org). A279D has not been characterized in the scientific literature and therefore, its effect on Rad51c protein function is unknown (PubMed, Nov 2023).
A279P missense loss of function RAD51C A279P does not lie within any known functional domains of the Rad51c protein (UniProt.org). A279P results in loss of interaction with Xrcc2, Xrcc3, and Rad51d, and reduced homology-directed DNA repair activity compared to wild-type Rad51c in culture (PMID: 37253112).
A279V missense unknown RAD51C A279V does not lie within any known functional domains of the Rad51c protein (UniProt.org). A279V rescues survival of Rad51c-null cells in culture, however, results in decreased interaction with Rad51b, Rad51d, and Xrcc3 in a yeast assay and reduced homologous recombination activity compared to wild-type Rad51c in cultured cells (PMID: 36099300), and therefore, its effect on Rad51c protein function is unknown.
A308S missense unknown RAD51C A308S does not lie within any known functional domains of the Rad51c protein (UniProt.org). A308S retains interaction with Rad51b, Rad51d, and Xrcc3 in a yeast assay (PMID: 36099300), but has not been fully biochemically characterized and therefore, its effect on Rad51c protein function is unknown.
A308T missense unknown RAD51C A308T does not lie within any known functional domains of the Rad51c protein (UniProt.org). The functional effect of A308T is conflicting as it results in decreased interaction with Rad51d in a yeast assay and decreased homologous recombination (HR) activity in one cell line but demonstrates proficient HR activity in another cell line, rescues survival of RAD51C-null cells in culture, and retains interaction with Rad51b and Xrcc3 in a yeast assay (PMID: 36099300).
A30E missense no effect - predicted RAD51C A30E lies within the region required for Holliday junction resolution activity of the Rad51c protein (UniProt.org). A30E binds to Rad51b, Rad51d, and Xrcc3 to similar levels as wild-type protein in a yeast assay and demonstrates homologous recombination activity similar to wild-type Rad51c in cultured cells (PMID: 36099300), and therefore, is predicted to have no effect on Rad51c protein function.
A324T missense unknown RAD51C A324T does not lie within any known functional domains of the Rad51c protein (UniProt.org). A324T is conflicting as it demonstrates homologous recombination activity similar to wild-type Rad51c in one cell line but reduced activity in another cell line, results in variable binding to Rad51d and reduced binding to Rad51b but binds to Xrcc3 to similar levels of wild-type protein in yeast assays, and rescues survival in Rad51c-null cells in culture (PMID: 36099300), and therefore, its effect on Rad51c protein function is unknown.
amp none no effect RAD51C amplification indicates an increased number of copies of the RAD51C gene. However, the mechanism causing the increase is unspecified.
C135R missense loss of function RAD51C C135R lies within the Rad51b, Rad51d, and Xrcc3-interacting region of the Rad51c protein (UniProt.org). C135R demonstrates decreased interaction with Rad51b, Rad51d, and Xrcc3 in a yeast assay (PMID: 36099300, PMID: 28864920) and reduced homologous recombination activity compared to wild-type Rad51c in cultured cells (PMID: 36099300).
C135Y missense loss of function RAD51C C135Y lies within the Rad51b, Rad51d, and Xrcc3-interaction region of the Rad51c protein (UniProt.org). C135Y confers a loss of function to the Rad51c protein as indicated by decreased Rad51 foci formation in cell culture (PMID: 22451500), decreased interaction with Rad51b, Rad51d, Xrcc3, and DNA in in vitro assays, reduced homologous recombination activity in cultured cells, and failure to rescue survival in Rad51c-null cells in culture (PMID: 36099300).
D108G missense loss of function RAD51C D108G lies within the region required for Holliday junction resolution activity and the Rad51b, Rad51d, and Xrcc3-interacting region of the Rad51c protein (UniProt.org). D108G results in loss of interaction with Xrcc2, Xrcc3, and Rad51d, decreased Rad51 foci formation, and reduced homology-directed DNA repair activity compared to wild-type Rad51c in culture (PMID: 37253112).
D108Y missense no effect - predicted RAD51C D108Y lies within the region required for Holliday junction resolution activity and the Rad51b, Rad51d, and Xrcc3-interacting region of the Rad51c protein (UniProt.org). D108Y results in variable interaction with Rad51b, Rad51d, and Xrcc3 in a yeast assay but demonstrates homologous recombination activity similar to wild-type Rad51c and rescues survival in Rad51c-null cells in culture (PMID: 36099300), and therefore, is predicted to have no effect on Rad51c protein function.
D141G missense unknown RAD51C D141G does not lie within any known functional domains of the Rad51c protein (UniProt.org). D141G results in proficient interaction with Rad51b and Xrcc3 and reduced interaction with Rad51d in a yeast assay (PMID: 36099300), but has not been fully biochemically characterized and therefore, its effect on Rad51c protein function is unknown.
D159A missense loss of function RAD51C D159A does not lie within any known functional domains of the Rad51c protein (UniProt.org). D159A results in loss of interaction with Xrcc2, Xrcc3, and Rad51d, and reduced homology-directed DNA repair activity compared to wild-type Rad51c in culture (PMID: 37253112).
D159N missense unknown RAD51C D159N does not lie within any known functional domains of the Rad51c protein (UniProt.org). D159N demonstrates partial rescue of mitomycin C hypersensitivity in chicken cells and Rad51 foci formation similar to wild-type Rad51c in human cells in culture (PMID: 20400964), but in another study results in decreased binding to Brca2, Palb2, Rad51 (PMID: 24141787), and Rad51d and demonstrates loss of interaction with Xrcc3 in cell culture (PMID: 37253112), and binds to Rad51b and Rad51c at reduced levels but to Xrcc3 similar to wild-type protein in a yeast assay (PMID: 36099300), and therefore, its effect on Rad51c protein function is unknown.
D159Y missense loss of function RAD51C D159Y does not lie within any known functional domains of the Rad51c protein (UniProt.org). D159Y results in loss of interaction with Xrcc2, Xrcc3, and Rad51d, decreased Rad51 foci formation, and reduced homology-directed DNA repair activity compared to wild-type Rad51c in culture (PMID: 37253112).
D242N missense loss of function RAD51C D242N does not lie within any known functional domains of the Rad51c protein (UniProt.org). D242N results in loss of interaction with Xrcc2, Xrcc3, and Rad51d, and reduced homology-directed DNA repair activity compared to wild-type Rad51c in culture (PMID: 37253112).
D318E missense unknown RAD51C D318E does not lie within any known functional domains of the Rad51c protein (UniProt.org). D318E binds to Rad51b, Rad51d, and Xrcc3 to similar levels of wild-type protein in a yeast assay (PMID: 36099300), but has not been fully biochemically characterized and therefore, its effect on Rad51c protein function is unknown.
D348V missense loss of function - predicted RAD51C D348V does not lie within any known functional domains of the Rad51c protein (UniProt.org). D348V results in reduced homology-directed DNA repair activity in culture (PMID: 37253112), and therefore, is predicted to lead to a loss of Rad51c protein function.
del deletion loss of function RAD51C del indicates a deletion of the RAD51C gene.
E146* nonsense loss of function - predicted RAD51C E146* results in a premature truncation of the Rad51c protein at amino acid 146 of 376 (UniProt.org). E146* is predicted to lead to a loss of Rad51c protein function as indicated by decreased binding to Rad51b in a yeast two-hybrid assay (PMID: 14704354).
E360Q missense unknown RAD51C E360Q does not lie within any known functional domains of the Rad51c protein (UniProt.org). E360Q binds to Rad51b, Rad51d, and Xrcc3 to similar levels of wild-type protein in a yeast assay (PMID: 36099300), but has not been fully biochemically characterized and therefore, its effect on Rad51c protein function is unknown.
E45D missense unknown RAD51C E45D lies within a region of the Rad51c protein required for Holliday junction resolution activity (UniProt.org). E45D has been identified in sequencing studies (PMID: 24185509), but has not been biochemically characterized and therefore, its effect on Rad51c protein function is unknown (PubMed, Mar 2024).
E59K missense unknown RAD51C E59K lies within a region of the Rad51c protein required for Holliday junction resolution activity (UniProt.org). E59K has not been characterized in the scientific literature and therefore, its effect on Rad51c protein function is unknown (PubMed, Mar 2024).
E80* nonsense loss of function RAD51C E80* results in a premature truncation of the Rad51c protein at amino acid 80 of 376 (UniProt.org). E80* confers a loss of function to the Rad51c protein as indicated by decreased binding to Rad51b, Xrcc3, and Rad51d in yeast two-hybrid assays (PMID: 14704354).
E92K missense unknown RAD51C E92K lies within a region of the Rad51c protein required for Holliday junction resolution activity and the RAD51B, RAD51D, and XRCC3-interacting region (UniProt.org). E92K has been identified in the scientific literature (PMID: 26261251), but has not been biochemically characterized and therefore, its effect on Rad51c protein function is unknown (PubMed, Mar 2024).
F103V missense loss of function RAD51C F103V lies within the region required for Holliday junction resolution activity and the Rad51b, Rad51d, and Xrcc3-interacting region of the Rad51c protein (UniProt.org). F103V results in decreased interaction with Rad51b, Rad51d, and Xrcc3 in a yeast assay and reduced homologous recombination activity in cultured cells (PMID: 36099300).
G112V missense unknown RAD51C G112V lies within the region required for Holliday junction resolution activity and the Rad51b, Rad51d, and Xrcc3-interacting region of the Rad51c protein (UniProt.org). G112V results in decreased interaction with Rad51b, Rad51c, and Xrcc3 in a yeast assay (PMID: 36099300), but has not been fully biochemically characterized and therefore, its effect on Rad51c protein function is unknown.
G113S missense unknown RAD51C G113S lies within the region required for Holliday junction resolution activity and the Rad51b, Rad51d, and Xrcc3-interacting region of the Rad51c protein (UniProt.org). G113S retains binding with Xrcc3 but demonstrates decreased interaction with Rad51b and Rad51d in a yeast assay (PMID: 36099300), but has not been fully biochemically characterized and therefore, its effect on Rad51c protein function is unknown.
G114R missense loss of function RAD51C G114R lies within the region required for Holliday junction resolution activity and the Rad51b, Rad51d, and Xrcc3-interacting region of the Rad51c protein (UniProt.org). G114R results in loss of interaction with Xrcc2, Xrcc3, and Rad51d, and reduced homology-directed DNA repair activity compared to wild-type Rad51c in culture (PMID: 37253112).
G114V missense loss of function RAD51C G114V lies within the region required for Holliday junction resolution activity and the Rad51b, Rad51d, and Xrcc3-interacting region of the Rad51c protein (UniProt.org). G114V results in loss of interaction with Xrcc2, Xrcc3, and Rad51d, and reduced homology-directed DNA repair activity compared to wild-type Rad51c in culture (PMID: 37253112).
G125S missense unknown RAD51C G125S lies within a region of the Rad51c protein required for Holliday junction resolution activity and the RAD51B, RAD51D, and XRCC3-interacting region (UniProt.org). The effect of G125S is conflicting as it results in decreased interaction with Rad51b, Rad51d, and Xrcc3 in a yeast assay and reduced homologous recombination (HR) activity in one cell line but proficient HR activity in another cell line, and rescues survival in RAD51C-null cells in culture (PMID: 36099300).
G125V missense loss of function RAD51C G125V lies within a region of the Rad51c protein required for Holliday junction resolution activity and the RAD51B, RAD51D, and XRCC3-interacting region (UniProt.org). G125V confers a loss of function to the Rad51c protein as indicated by failure to rescue mitomycin C hypersensitivity, decreased Rad51 foci formation in cell culture (PMID: 20400964), decreased interaction with Rad51b, Rad51d, Xrcc3, and DNA in in vitro assays, reduced homologous recombination activity in cultured cells, and failure to rescue survival in Rad51c-null cells in culture (PMID: 36099300).
G130A missense loss of function RAD51C G130A lies within the Rad51b, Rad51d, and Xrcc3-interaction region of the Rad51c protein (UniProt.org). G130A results in decreased interaction with Rad51b, Rad51d, Xrcc3, and DNA in in vitro assays and reduced homologous recombination activity compared to wild-type Rad51c in cultured cells (PMID: 36099300).
G130R missense loss of function RAD51C G130R lies within the Rad51b, Rad51d, and Xrcc3-interacting region of the Rad51c protein (UniProt.org). G130R results in loss of interaction with Xrcc2, Xrcc3, and Rad51d, decreased colony formation, reduced Rad51 foci formation, and decreased homology-directed DNA repair activity compared to wild-type Rad51c in culture (PMID: 37253112).
G150E missense loss of function RAD51C G150E does not lie within any known functional domains of the Rad51c protein (UniProt.org). G150E results in loss of interaction with Xrcc2, Xrcc3, and Rad51d, and reduced homology-directed DNA repair activity compared to wild-type Rad51c in culture (PMID: 37253112).
G153D missense unknown RAD51C G153D does not lie within any known functional domains of the Rad51c protein (UniProt.org). G153D results in reduced homologous recombination activity compared to wild-type Rad51c in cell culture (PMID: 36099300) and decreased interaction with Xrcc3, Rad51b, and Rad51d in a yeast assay but rescues survival in Rad51c-null cells in culture (PMID: 21980511, PMID: 36099300), and therefore, its effect on Rad51c protein function is unknown.
G153S missense unknown RAD51C G153S does not lie within any known functional domains of the Rad51c protein (UniProt.org). G153S retains binding with Rad51b and Xrcc3 but demonstrates variable interaction with Rad51d in a yeast assay (PMID: 36099300), but has not been fully biochemically characterized and therefore, its effect on Rad51c protein function is unknown.
G162E missense unknown RAD51C G162E does not lie within any known functional domains of the Rad51c protein (UniProt.org). G162E retains binding with Xrcc3 in a yeast assay and rescues survival of Rad51c-null cells in culture, however, results in decreased interaction with Rad51b and Rad51d in a yeast assay and reduced homologous recombination activity compared to wild-type Rad51c in cultured cells (PMID: 36099300), and therefore, its effect on Rad51c protein function is unknown.
G162Efs*9 frameshift loss of function - predicted RAD51C G162Efs*9 indicates a shift in the reading frame starting at amino acid 162 and terminating nine residues downstream causing a premature truncation of the 376 amino acid Rad51c protein (UniProt.org). G162Efs*9 has not been characterized however, due to the effects of other truncation mutations downstream of G162 (PMID: 28588062), is predicted to lead to a loss of Rad51c protein function.
G162R missense unknown RAD51C G162R does not lie within any known functional domains of the Rad51c protein (UniProt.org). G162R results in decreased interaction with Rad51d, Rad51b, and Xrcc3 in a yeast assay (PMID: 36099300), but has not been fully biochemically characterized and therefore, its effect on Rad51c protein function is unknown.
G264S missense loss of function - predicted RAD51C G264S does not lie within any known functional domains of the Rad51c protein (UniProt.org). G264S retains binding with Xrcc3 and results in Chek2 activation similar to wild-type Rad51c but results in moderately decreased DNA damage response, interstrand cosslink repair (PMID: 22167183), and homologous recombination in cultured cells (PMID: 22167183, PMID: 25292178), and therefore, is predicted to lead to a loss of Rad51c protein function.
G264V missense no effect RAD51C G264V does not lie within any known functional domains of the Rad51c protein (UniProt.org). G264V demonstrates rescue of mitomycin C hypersensitivity and Rad51 foci formation similar to wild-type Rad51c in culture (PMID: 20400964).
G302V missense loss of function - predicted RAD51C G302V does not lie within any known functional domains of the Rad51c protein (UniProt.org). G302V binds to Rad51d and Xrcc2 and supports cell proliferation to similar levels as wild-type Rad51c, but results in loss of interaction with Xrcc3, altered Rad51 foci formation, and reduced homology-directed DNA repair activity in culture (PMID: 37253112), and therefore, is predicted to lead to a loss of Rad51c protein function.
G306R missense unknown RAD51C G306R does not lie within any known functional domains of the Rad51c protein (UniProt.org). G306R results in altered homology-directed DNA repair activity and Rad51 foci formation in culture (PMID: 37253112), but has not been fully biochemically characterized and therefore, its effect on Rad51c protein function is unknown.
G3R missense no effect RAD51C G3R lies within a region of the Rad51c protein required for Holliday junction resolution activity (UniProt.org). G3R demonstrates rescue of mitomycin C hypersensitivity and Rad51 foci formation similar to wild-type Rad51c in culture (PMID: 20400964).
H192_R193delinsGG indel no effect RAD51C H192_R193delinsGG results in a deletion of two amino acids in the Rad51c protein combined with the insertion of two new amino acids in the same location (UniProt.org). H192_R193delinsGG, described as a reversion mutation, has no effect on Rad51c protein function, as demonstrated by restoration of homologous recombination function similar to wild-type Rad51c in cultured cells, and is associated with acquired resistance to PARP inhibitors (PMID: 28588062). Y
H250Y missense unknown RAD51C H250Y does not lie within any known functional domains of the Rad51c protein (UniProt.org). H250Y has not been characterized in the scientific literature and therefore, its effect on Rad51c protein function is unknown (PubMed, Nov 2023).
I144T missense unknown RAD51C I144T does not lie within any known functional domains of the Rad51c protein (UniProt.org). I144T is conflicting as it demonstrates reduced homologous recombination activity in one cell line, but proficient activity in another, rescues survival in Rad51c-null cells in culture but results in variable interaction with Rad51b, Rad51d, and Xrcc3 in a yeast assay (PMID: 36099300), and therefore, its effect on Rad51c protein function is unknown.
inact mut unknown loss of function RAD51C inact mut indicates that this variant results in a loss of function of the Rad51c protein. However, the specific amino acid change has not been identified.
K131I missense loss of function RAD51C K131I lies within the Rad51b, Rad51d, and Xrcc3-interacting region of the Rad51c protein (UniProt.org). K131I results in loss of interaction with Xrcc2, Xrcc3, and Rad51d, decreased colony formation, reduced Rad51 foci formation, and decreased homology-directed DNA repair activity compared to wild-type Rad51c in culture (PMID: 37253112).
K26M missense unknown RAD51C K26M lies within the region of the Rad51c protein required for Holliday junction resolution activity (UniProt.org). K26M binds to Rad51b, Rad51d, and Xrcc3 to similar levels of wild-type protein in a yeast assay (PMID: 36099300), but has not been fully biochemically characterized and therefore, its effect on Rad51c protein function is unknown.
K320M missense unknown RAD51C K320M does not lie within any known functional domains of the Rad51c protein (UniProt.org). K320M has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Rad51c protein function is unknown (PubMed, Nov 2023).
L138F missense unknown RAD51C L138F does not lie within any known functional domains of the Rad51c protein (UniProt.org). L138F is conflicting as it demonstrates homologous recombination activity similar to wild-type Rad51c in one cell line but deficient activity in another cell line, and rescues survival in Rad51c-null cells in culture (PMID: 36099300), but results in a loss of interaction with Rad51b, Rad51d, and Xrcc3 in a yeast assay (PMID: 36099300), decreased Rad51 foci formation in cell culture, and failure to rescue mitomycin C hypersensitivity (PMID: 20400964), and therefore, its effect on Rad51c protein function is unknown.
L219S missense unknown RAD51C L219S does not lie within any known functional domains of the Rad51c protein (UniProt.org). L219S results in a loss of Rad51 foci formation in cell culture (PMID: 22451500) and decreased interaction with Rad51b, Rad51d, and Xrcc3 in a yeast assay, but results in homologous recombination activity similar to wild-type Rad51c and rescues survival in Rad51c-null cells in culture (PMID: 36099300), and therefore, its effect on Rad51c protein function is unknown.
L226P missense loss of function RAD51C L226P does not lie within any known functional domains of the Rad51c protein (UniProt.org). L226P results in decreased interaction with Rad51b, Rad51d, and Xrcc3 in a yeast assay and reduced homologous recombination activity compared to wild-type Rad51c in cultured cells (PMID: 36099300).
L257V missense unknown RAD51C L257V does not lie within any known functional domains of the Rad51c protein (UniProt.org). L257V binds to Rad51b, Rad51d, and Xrcc3 to similar levels of wild-type protein in a yeast assay (PMID: 36099300), but has not been fully biochemically characterized and therefore, its effect on Rad51c protein function is unknown.
L262V missense unknown RAD51C L262V does not lie within any known functional domains of the Rad51c protein (UniProt.org). L262V retains binding with Rad51b and Xrcc3, but results in variable interaction with Rad51d in a yeast assay (PMID: 36099300), and therefore, its effect on Rad51c protein function is unknown.
L265* nonsense loss of function - predicted RAD51C L265* results in a premature truncation of the Rad51c protein at amino acid 265 of 376 (UniProt.org). L265* is predicted to lead to a loss of Rad51c protein function as indicated by decreased binding to Rad51b in a yeast two-hybrid assay (PMID: 14704354).
L27P missense loss of function - predicted RAD51C L27P lies within the region of the Rad51c protein required for Holliday junction resolution activity (UniProt.org). L27P binds to Rad51b, Rad51d, and Xrcc3 to similar levels as wild-type protein in a yeast assay, however, results in reduced homologous recombination activity compared to wild-type Rad51c in cultured cells (PMID: 36099300), and therefore, is predicted to lead to a loss of Rad51c protein function.
L357S missense unknown RAD51C L357S does not lie within any known functional domains of the Rad51c protein (UniProt.org). L357S has not been characterized in the scientific literature and therefore, its effect on Rad51c protein function is unknown (PubMed, Nov 2023).
L91F missense no effect - predicted RAD51C L91F lies within the region required for Holliday junction resolution activity and the Rad51b, Rad51d, and Xrcc3-interacting region of the Rad51c protein (UniProt.org). L91F results in variable interaction with Rad51d but retains binding with Rad51b and Xrcc3 in a yeast assay and demonstrates homologous recombination activity similar to wild-type Rad51c in cultured cells (PMID: 36099300), and therefore, is predicted to have no effect on Rad51c protein function.
loss unknown loss of function RAD51C loss indicates loss of the RAD51C gene, mRNA, and protein.
M118I missense unknown RAD51C M118I lies within a region of the Rad51c protein required for Holliday junction resolution activity and the RAD51B, RAD51D, and XRCC3-interacting region (UniProt.org). M118I has been identified in the scientific literature (PMID: 21798893, PMID: 23333482), but has not been biochemically characterized and therefore, its effect on Rad51c protein function is unknown (PubMed, Mar 2024).
M136L missense unknown RAD51C M136L lies within the Rad51b, Rad51d, and Xrcc3-interacting region of the Rad51c protein (UniProt.org). M136L binds to Rad51b, Rad51d, and Xrcc3 to similar levels of wild-type protein in a yeast assay (PMID: 36099300), but has not been fully biochemically characterized and therefore, its effect on Rad51c protein function is unknown.
M1? unknown unknown RAD51C M1? indicates a disruption of the methionine (M) start codon with an unknown translational effect on the Rad51c protein. M1? has not been characterized, however, a version of Rad51c utilizing an alternate methionine at codon 10 decreases mitomycin C sensitivity similar to full-length Rad51c (PMID: 12966089), and therefore, its effect on Rad51c function is unknown (PubMed, Mar 2024).
mutant unknown unknown RAD51C mutant indicates an unspecified mutation in the RAD51C gene.
N71D missense unknown RAD51C N71D lies within a region of the Rad51c protein required for Holliday junction resolution activity (UniProt.org). N71D has not been characterized in the scientific literature and therefore, its effect on Rad51c protein function is unknown (PubMed, Mar 2024).
over exp none no effect RAD51C over exp indicates an over expression of the Rad51c protein and/or mRNA. However, the mechanism causing the over expression is unspecified.
P21A missense no effect RAD51C P21A lies within a region of the Rad51c protein required for Holliday junction resolution activity (UniProt.org). P21A binds to Rad51b, Rad51d, and Xrcc3 to similar levels of wild-type protein in a yeast assay and demonstrates homologous recombination activity similar to wild-type Rad51c in cultured cells (PMID: 36099300).
P21S missense no effect - predicted RAD51C P21S lies within a region of the Rad51c protein required for Holliday junction resolution activity (UniProt.org). P21S binds to Rad51b, Rad51d, and Xrcc3 to similar levels of wild-type protein in a yeast assay (PMID: 36099300) and retains the ability to induce foci formation in culture (PMID: 37253112), and therefore, is predicted to have no effect on Rad51c protein function.
P21T missense unknown RAD51C P21T lies within a region of the Rad51c protein required for Holliday junction resolution activity (UniProt.org). P21T has been identified in the scientific literature (PMID: 36099300), but has not been biochemically characterized and therefore, its effect on Rad51c protein function is unknown (PubMed, Mar 2024).
P247L missense unknown RAD51C P247L does not lie within any known functional domains of the Rad51c protein (UniProt.org). P247L is conflicting as it demonstrates homologous recombination activity similar to wild-type in one cell line but reduced in another, rescues survival in Rad51c-null cells in culture, and results in variable interaction with Rad51b, Rad51d, and Xrcc3 in a yeast assay (PMID: 36099300), and therefore, its effect on Rad51c protein function is unknown.
P330H missense unknown RAD51C P330H does not lie within any known functional domains of the Rad51c protein (UniProt.org). P330H retains binding with Rad51b and Xrcc3 and rescues survival in Rad51c-null cells in culture, however, results in decreased binding with Rad51d in a yeast assay and reduced homologous recombination activity in cultured cells (PMID: 36099300), and therefore, its effect on Rad51c protein function is unknown.
P43S missense no effect - predicted RAD51C P43S lies within the region required for Holliday junction resolution activity of the Rad51c protein (UniProt.org). P43S binds to Rad51b, Rad51d, and Xrcc3 at similar levels as wild-type protein in a yeast assay and demonstrates homologous recombination activity similar to wild-type Rad51c in cultured cells (PMID: 36099300), and therefore, is predicted to have no effect on Rad51c protein function.
Q11R missense no effect RAD51C Q11R lies within the region required for Holliday junction resolution activity of the Rad51c protein (UniProt.org). Q11R binds to Rad51b, Rad51d, and Xrcc3 to similar levels of wild-type protein in a yeast assay and demonstrates homologous recombination activity similar to wild-type Rad51c in cultured cells (PMID: 36099300).
Q133E missense loss of function - predicted RAD51C Q133E lies within the Rad51b, Rad51d, and Xrcc3-interacting region of the Rad51c protein (UniProt.org). Q133E binds to Rad51d and supports cell proliferation to similar levels as wild-type Rad51c, but results in loss of interaction with Xrcc3, partial loss of interaction with Xrcc2, and reduced homology-directed DNA repair activity in culture (PMID: 37253112), and therefore, is predicted to lead to a loss of Rad51c protein function.
Q133K missense loss of function RAD51C Q133K lies within the Rad51b, Rad51d, and Xrcc3-interacting region of the Rad51c protein (UniProt.org). Q133K results in decreased interaction with Rad51b, Rad51d, Xrcc3, and DNA in in vitro assays and reduced homologous recombination activity compared to wild-type Rad51c in cultured cells (PMID: 36099300).
Q143R missense loss of function RAD51C Q143R does not lie within any known functional domains of the Rad51c protein (UniProt.org). Q143R confers a loss of function to the Rad51c protein as indicated by decreased Rad51 foci formation in cell culture (PMID: 22451500) and decreased interaction with Rad51b, Rad51c, and Xrcc3 in a yeast assay (PMID: 36099300).
R12W missense loss of function - predicted RAD51C R12W lies within a region of the Rad51c protein required for Holliday junction resolution activity (UniProt.org). R12W retains binding of Rad51d but results in decreased interaction with Rad51b and Xrcc3 in a yeast assay and reduced homologous recombination activity in culture (PMID: 36099300), and therefore, is predicted to lead to a loss of Rad51c protein function.
R168G missense loss of function RAD51C R168G lies within the Rad51b, Rad51d, and Xrcc3-interacting region of the Rad51c protein (UniProt.org). R168G results in loss of interaction with Xrcc2, Xrcc3, and Rad51d, decreased colony formation, reduced Rad51 foci formation, and decreased homology-directed DNA repair activity compared to wild-type Rad51c in culture (PMID: 37253112).
R193* nonsense loss of function RAD51C R193* results in a premature truncation of the Rad51c protein at amino acid 193 of 376 (UniProt.org). R193* confers a loss of function to the Rad51c protein as demonstrated by impairment of homologous recombination repair in cultured cells and reduced interaction with Xrcc3 and Rad51b in yeast assays (PMID: 28588062).
R193L missense no effect RAD51C R193L does not lie within any known functional domains of the Rad51c protein (UniProt.org). R193L, described as a reversion mutation, has no effect on Rad51c protein function, as demonstrated by restoration of homologous recombination function similar to wild-type Rad51c in cultured cells, and is associated with acquired resistance to PARP inhibitors (PMID: 28588062). Y
R193Q missense unknown RAD51C R193Q does not lie within any known functional domains of the Rad51c protein (UniProt.org). R193Q has not been characterized in the scientific literature and therefore, its effect on Rad51c protein function is unknown (PubMed, Nov 2023).
R193W missense no effect RAD51C R193W does not lie within any known functional domains of the Rad51c protein (UniProt.org). R193W, described as a reversion mutation, has no effect on Rad51c protein function, as demonstrated by restoration of homologous recombination function similar to wild-type Rad51c in cultured cells, and is associated with acquired resistance to PARP inhibitors (PMID: 28588062). Y
R212C missense unknown RAD51C R212C does not lie within any known functional domains of the Rad51c protein (UniProt.org). R212C binds to Rad51b, Rad51d, and Xrcc3 to similar levels of wild-type protein in a yeast assay (PMID: 36099300), but has not been fully biochemically characterized and therefore, its effect on Rad51c protein function is unknown.
R214C missense unknown RAD51C R214C does not lie within any known functional domains of the Rad51c protein (UniProt.org). R214C results in decreased interaction with Xrcc3 and Rad51b in a yeast-two-hybrid assay in one study (PMID: 21980511), but in another study binds to Rad51b, Rad51d, and Xrcc3 to similar levels of wild-type protein in a yeast assay (PMID: 36099300) and demonstrates homology-directed repair activity in cultured cells (PMID: 37253112), and therefore, its effect on Rad51c protein function is unknown.
R237* nonsense unknown RAD51C R237* results in a premature truncation of the Rad51c protein at amino acid 237 of 376 (UniProt.org). R237* has been identified in the scientific literature (PMID: 37129948), but has not been biochemically characterized and therefore, its effect on Rad51c protein function is unknown (PubMed, Mar 2024).
R237P missense loss of function RAD51C R237P does not lie within any known functional domains of the Rad51c protein (UniProt.org). R237P results in loss of interaction with Xrcc2, Xrcc3, and Rad51d, and reduced homology-directed DNA repair activity compared to wild-type Rad51c in culture (PMID: 37253112).
R249C missense no effect - predicted RAD51C R249C does not lie within any known functional domains of the Rad51c protein (UniProt.org). R249C binds to Rad51b, Rad51d, and Xrcc3 at similar levels as wild-type protein in a yeast assay, demonstrates homologous recombination activity similar to wild-type Rad51c in cultured cells, and rescues survival in Rad51c-null cells in culture (PMID: 36099300), and therefore, is predicted to have no effect on Rad51c protein function.
R249H missense unknown RAD51C R249H does not lie within any known functional domains of the Rad51c protein (UniProt.org). R249H binds to Rad51b, Rad51d, and Xrcc3 to similar levels of wild-type protein in a yeast assay (PMID: 36099300), but has not been fully biochemically characterized and therefore, its effect on Rad51c protein function is unknown.
R258H missense loss of function RAD51C R258H does not lie within any known functional domains of the Rad51c protein (UniProt.org). R258H rescues survival in Rad51c-null cells in culture (PMID: 36099300), however, results in variable interaction with Rad51b, Rad51d, and Xrcc3 in a yeast assay (PMID: 36099300), defects in cell cycle progression at the G2/M transition (PMID: 22167183, PMID: 20400963), decreased sensitivity to mitomycin in cell culture, and reduced homologous recombination activity in a reporter assay (PMID: 22167183) and in cell culture (PMID: 36099300).
R260W missense unknown RAD51C R260W does not lie within any known functional domains of the Rad51c protein (UniProt.org). R260W binds to Rad51b, Rad51d, and Xrcc3 to similar levels of wild-type protein in a yeast assay (PMID: 36099300), but has not been biochemically characterized and therefore, its effect on Rad51c protein function is unknown.
R312W missense loss of function RAD51C R312W does not lie within any known functional domains of the Rad51c protein (UniProt.org). R312W retains binding with Rad51b and Xrcc3, however, results in a loss of Rad51c function as indicated by failure to rescue mitomycin C hypersensitivity and cell cycle arrest (PMID: 28829762), defects in homologous recombination repair (PMID: 28829762, PMID: 36099300), and failure to rescue survival in Rad51c-null cells in culture (PMID: 36099300).
R319Q missense unknown RAD51C R319Q does not lie within any known functional domains of the Rad51c protein (UniProt.org). R319Q has been identified in sequencing studies (PMID: 26261251), but has not been biochemically characterized and therefore, its effect on Rad51c protein function is unknown (PubMed, Nov 2023).
R366Q missense loss of function - predicted RAD51C R366Q does not lie within any known functional domains of the Rad51c protein (UniProt.org). R366Q results in Chk2 activation and Rad51 foci formation similar to wild-type in cell culture (PMID: 20400964) and interaction with Rad51b, Rad51d, and Xrcc3 similar to wild-type in yeast assays (PMID: 36099300), but leads to decreased nuclear localization and partial rescue of mitomycin C hypersensitivity in chicken cells (PMID: 29158291), moderately increased chromosomal aberrations, reduced G2/M accumulation and DNA synthesis in cultured cells, and a partial homologous recombination defect in a reporter assay (PMID: 22167183) and in cultured cells (PMID: 25292178), and therefore, is predicted to lead to a loss of Rad51c protein function.
S105* nonsense loss of function - predicted RAD51C S105* results in a premature truncation of the Rad51c protein at amino acid 105 of 376 (UniProt.org). S105* has not been characterized however, due to the effects of other truncation mutations downstream of S105 (PMID: 28588062), is predicted to lead to a loss of Rad51c protein function.
S163R missense loss of function RAD51C S163R does not lie within any known functional domains of the Rad51c protein (UniProt.org). S163R binds to Rad51d to similar levels of wild-type Rad51c, but results in loss of interaction with Xrcc3, partial loss of interaction with Xrcc2, and reduced homology-directed DNA repair activity compared to wild-type Rad51c in culture (PMID: 37253112).
T102I missense loss of function RAD51C T102I lies within the region required for Holliday junction resolution activity and the Rad51b, Rad51d, and Xrcc3-interacting region of the Rad51c protein (UniProt.org). T102I results in loss of interaction with Xrcc2, Xrcc3, and Rad51d, and reduced homology-directed DNA repair activity compared to wild-type Rad51c in culture (PMID: 37253112).
T121R missense loss of function RAD51C T121R lies within the region required for Holliday junction resolution activity and the Rad51b, Rad51d, and Xrcc3-interacting region of the Rad51c protein (UniProt.org). T121R results in decreased interaction with Rad51b, Rad51d, and Xrcc3 in a yeast assay, reduced homologous recombination activity compared to wild-type Rad51c in cultured cells, and failure to rescue survival in Rad51c-null cells in culture (PMID: 36099300).
T132I missense loss of function RAD51C T132I does not lie within any known functional domains of the Rad51c protein (UniProt.org). T132I results in loss of interaction with Xrcc2, Xrcc3, and Rad51d, and reduced homology-directed DNA repair activity compared to wild-type Rad51c in culture (PMID: 37253112).
T132P missense loss of function RAD51C T132P lies within the Rad51b, Rad51d, and Xrcc3-interacting region of the Rad51c protein (UniProt.org). T132P retains binding to Rad51b, Rad51c, and Xrcc2 but not Xrcc3 in an in vitro assay in one study (PMID: 33832919), but demonstrates reduced interaction with Rad51b, Rad51d, and Xrcc3 in a yeast assay in another study (PMID: 36099300), results in undetectable interaction with DNA in in vitro analyses, reduced homologous recombination activity compared to wild-type Rad51c in cultured cells (PMID: 36099300, PMID: 33832919), fails to rescue survival of Rad51c-null cells, and results in decreased Rad51 foci formation in cell culture (PMID: 33832919).
T132R missense loss of function RAD51C T132R lies within the Rad51b, Rad51d, and Xrcc3-interacting region of the Rad51c protein (UniProt.org). T132R results in loss of interaction with Xrcc2, Xrcc3, and Rad51d, decreased colony formation, reduced Rad51 foci formation, and decreased homology-directed DNA repair activity compared to wild-type Rad51c in culture (PMID: 37253112).
T287A missense unknown RAD51C T287A does not lie within any known functional domains of the Rad51c protein (UniProt.org). T287A is conflicting as it demonstrates homologous recombination activity similar to wild-type Rad51c in cultured cells, rescues survival in Rad51c-null cells in culture, and results in variable interaction with Rad51b, Rad51d, and Xrcc3 in one study (PMID: 36099300), but demonstrates a partial defect in homologous recombination (PMID: 22167183, PMID: 21980511, PMID: 25292178) and decreased association with Xrcc3 in other studies (PMID: 22167183, PMID: 21980511), and therefore, its effect on Rad51c protein function is unknown.
T336P missense unknown RAD51C T336P does not lie within any known functional domains of the Rad51c protein (UniProt.org). T336P retains binding with Rad51b and Xrcc3 but results in variable interaction with Rad51d in a yeast assay (PMID: 36099300), and therefore, its effect on Rad51c protein function is unknown.
T5R missense unknown RAD51C T5R lies within a region of the Rad51c protein required for Holliday junction resolution activity (UniProt.org). T5R has not been characterized in the scientific literature and therefore, its effect on Rad51c protein function is unknown (PubMed, Mar 2024).
V140E missense loss of function RAD51C V140E does not lie within any known functional domains of the Rad51c protein (UniProt.org). V140E results in loss of interaction with Xrcc2, Xrcc3, and Rad51d, decreased Rad51 foci formation, and reduced homology-directed DNA repair activity compared to wild-type Rad51c in culture (PMID: 37253112).
V140G missense loss of function RAD51C V140G does not lie within any known functional domains of the Rad51c protein (UniProt.org). V140G results in decreased interaction with Rad51b, Rad51d, and Xrcc3 in a yeast assay and reduced homologous recombination activity compared to wild-type Rad51c in cultured cells (PMID: 36099300).
V156D missense loss of function RAD51C V156D does not lie within any known functional domains of the Rad51c protein (UniProt.org). V156D results in loss of interaction with Xrcc2, Xrcc3, and Rad51d, and reduced homology-directed DNA repair activity compared to wild-type Rad51c in culture (PMID: 37253112).
V169A missense no effect RAD51C V169A does not lie within any known functional domains of the Rad51c protein (UniProt.org). V169A demonstrates rescue of mitomycin C hypersensitivity and Rad51 foci formation similar to wild-type Rad51c in culture (PMID: 20400964).
V350I missense unknown RAD51C V350I does not lie within any known functional domains of the Rad51c protein (UniProt.org). V350I has not been characterized in the scientific literature and therefore, its effect on Rad51c protein function is unknown (PubMed, Nov 2023).
Y224H missense no effect - predicted RAD51C Y224H does not lie within any known functional domains of the Rad51c protein (UniProt.org). Y224H binds to Rad51b, Rad51d, and Xrcc3 at similar levels as wild-type Rad51c in a yeast assay (PMID: 36099300) and therefore, is predicted to have no effect on Rad51c protein function.