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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_006722001.5 | 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 |
| NM_002876.3 | 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 |
| XM_047436505.1 | 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_006722002.4 | chr17:g.58695125G>A | c.340G>A | p.G114R | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| RAD51C G114R | loss of function |