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| Gene | RAD51C |
| Variant | E67K |
| Impact List | missense |
| Protein Effect | no effect - predicted |
| Gene Variant Descriptions | RAD51C E67K lies within a region of the Rad51c protein required for Holliday junction resolution activity (UniProt.org). E67K retains binding to Rad51d similar to wild-type Rad51c in a yeast assay, demonstrates functional homology-directed DNA repair activity in culture, and rescues viability in Rad51c-deficient cells (PMID: 40670332), and therefore is predicted to have no effect on Rad51c protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
RAD51C mutant RAD51C E67K |
| Transcript | NM_058216.3 |
| gDNA | chr17:g.58694984G>A |
| cDNA | c.199G>A |
| Protein | p.E67K |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_047436505.1 | chr17:g.58694984G>A | c.199G>A | p.E67K | RefSeq | GRCh38/hg38 |
| XM_006722001.5 | chr17:g.58694984G>A | c.199G>A | p.E67K | RefSeq | GRCh38/hg38 |
| XM_006722002.5 | chr17:g.58694984G>A | c.199G>A | p.E67K | RefSeq | GRCh38/hg38 |
| NM_058216.3 | chr17:g.58694984G>A | c.199G>A | p.E67K | RefSeq | GRCh38/hg38 |
| NM_002876.4 | chr17:g.58694984G>A | c.199G>A | p.E67K | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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