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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 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006722002.4 | chr17:g.58695125G>A | c.340G>A | p.G114R | RefSeq | GRCh38/hg38 |
NM_002876.4 | chr17:g.58695125G>A | c.340G>A | p.G114R | RefSeq | GRCh38/hg38 |
XM_006722001.5 | chr17:g.58695125G>A | c.340G>A | p.G114R | RefSeq | GRCh38/hg38 |
XM_047436505.1 | chr17:g.58695125G>A | c.340G>A | p.G114R | RefSeq | GRCh38/hg38 |
NM_002876.3 | chr17:g.58695125G>A | c.340G>A | p.G114R | RefSeq | GRCh38/hg38 |
XM_006722001.4 | chr17:g.58695125G>A | c.340G>A | p.G114R | RefSeq | GRCh38/hg38 |
XM_006722002.5 | chr17:g.58695125G>A | c.340G>A | p.G114R | RefSeq | GRCh38/hg38 |
NM_058216.2 | chr17:g.58695125G>A | c.340G>A | p.G114R | RefSeq | GRCh38/hg38 |
NM_058216.3 | chr17:g.58695125G>A | c.340G>A | p.G114R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
RAD51C G114R | Advanced Solid Tumor | sensitive | Cisplatin | Preclinical - Cell culture | Actionable | In a preclinical study, the expression of RAD51C G114R sensitized RAD51C-deficient cells to Platinol (cisplatin) treatment in culture, resulting in decreased cell proliferation (PMID: 37253112). | 37253112 |