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| Gene | RAD51C |
| Variant | R24L |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | RAD51C R24L lies within a region of the Rad51c protein required for Holliday junction resolution activity (UniProt.org). R24L maintains functional homology-directed DNA repair activity in cell culture (PMID: 37253112), and retains the ability to complement hypersensitivity to mitomycin C and etoposide in RAD51C-deficient cells, but demonstrates impaired ability to rescue survival of RAD51C-deficient cells upon PARP inhibitor treatment in culture (PMID: 36562461), and results in decreased survival in a high-throughput cell culture assay (PMID: 39299233), and therefore, its effect on Rad51c protein function is unknown. |
| Associated Drug Resistance | |
| Category Variants Paths |
RAD51C mutant RAD51C R24L |
| Transcript | NM_058216.3 |
| gDNA | chr17:g.58692714G>T |
| cDNA | c.71G>T |
| Protein | p.R24L |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_058216.3 | chr17:g.58692714G>T | c.71G>T | p.R24L | RefSeq | GRCh38/hg38 |
| XM_047436505.1 | chr17:g.58692714G>T | c.71G>T | p.R24L | RefSeq | GRCh38/hg38 |
| NM_002876.4 | chr17:g.58692714G>T | c.71G>T | p.R24L | RefSeq | GRCh38/hg38 |
| XM_006722002.5 | chr17:g.58692714G>T | c.71G>T | p.R24L | RefSeq | GRCh38/hg38 |
| XM_006722001.5 | chr17:g.58692714G>T | c.71G>T | p.R24L | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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