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Gene | RAD51C |
Variant | G114R |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | 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). |
Associated Drug Resistance | |
Category Variants Paths |
RAD51C mutant RAD51C inact mut RAD51C G114R |
Transcript | NM_058216.3 |
gDNA | chr17:g.58695125G>A |
cDNA | c.340G>A |
Protein | p.G114R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |