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Gene | RAD51C |
Variant | G125V |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | 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). |
Associated Drug Resistance | |
Category Variants Paths |
RAD51C mutant RAD51C inact mut RAD51C G125V |
Transcript | NM_058216.3 |
gDNA | chr17:g.58695159G>T |
cDNA | c.374G>T |
Protein | p.G125V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |