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| Gene | RAD51C |
| Variant | Q133K |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | 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, decreased ATPase activity in an in vitro assay, and reduced homologous recombination activity compared to wild-type Rad51c in cultured cells (PMID: 36099300). |
| Associated Drug Resistance | |
| Category Variants Paths |
RAD51C mutant RAD51C inact mut RAD51C Q133K |
| Transcript | NM_058216.3 |
| gDNA | chr17:g.58695182C>A |
| cDNA | c.397C>A |
| Protein | p.Q133K |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_047436505.1 | chr17:g.58695182C>A | c.397C>A | p.Q133K | RefSeq | GRCh38/hg38 |
| XM_006722002.4 | chr17:g.58695182C>A | c.397C>A | p.Q133K | RefSeq | GRCh38/hg38 |
| XM_006722001.4 | chr17:g.58695182C>A | c.397C>A | p.Q133K | RefSeq | GRCh38/hg38 |
| NM_058216.2 | chr17:g.58695182C>A | c.397C>A | p.Q133K | RefSeq | GRCh38/hg38 |
| XM_006722001.5 | chr17:g.58695182C>A | c.397C>A | p.Q133K | RefSeq | GRCh38/hg38 |
| NM_002876.4 | chr17:g.58695182C>A | c.397C>A | p.Q133K | RefSeq | GRCh38/hg38 |
| NM_058216.3 | chr17:g.58695182C>A | c.397C>A | p.Q133K | RefSeq | GRCh38/hg38 |
| XM_006722002.5 | chr17:g.58695182C>A | c.397C>A | p.Q133K | RefSeq | GRCh38/hg38 |
| NM_002876.3 | chr17:g.58695182C>A | c.397C>A | p.Q133K | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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