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| Gene | RAD51C |
| Variant | E146* |
| Impact List | nonsense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | RAD51C E146* results in a premature truncation of the Rad51c protein at amino acid 146 of 376 (UniProt.org). E146* results in decreased binding to Rad51b in a yeast two-hybrid assay (PMID: 14704354), and due to the effects of truncation mutations downstream of E146 (PMID: 28588062), is predicted to lead to a loss of Rad51 protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
RAD51C mutant RAD51C inact mut RAD51C E146* |
| Transcript | NM_058216.3 |
| gDNA | chr17:g.58696724G>T |
| cDNA | c.436G>T |
| Protein | p.E146* |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_006722002 | chr17:g.58696724G>T | c.436G>T | p.E146* | RefSeq | GRCh38/hg38 |
| XM_006722002.4 | chr17:g.58696724G>T | c.436G>T | p.E146* | RefSeq | GRCh38/hg38 |
| NM_058216 | chr17:g.58696724G>T | c.436G>T | p.E146* | RefSeq | GRCh38/hg38 |
| XM_006722001.5 | chr17:g.58696724G>T | c.436G>T | p.E146* | RefSeq | GRCh38/hg38 |
| XM_006722001.4 | chr17:g.58696724G>T | c.436G>T | p.E146* | RefSeq | GRCh38/hg38 |
| NM_058216.3 | chr17:g.58696724G>T | c.436G>T | p.E146* | RefSeq | GRCh38/hg38 |
| XM_006722001 | chr17:g.58696724G>T | c.436G>T | p.E146* | RefSeq | GRCh38/hg38 |
| NM_058216.2 | chr17:g.58696724G>T | c.436G>T | p.E146* | RefSeq | GRCh38/hg38 |
| XM_006722002.5 | chr17:g.58696724G>T | c.436G>T | p.E146* | RefSeq | GRCh38/hg38 |
| XM_047436505.1 | chr17:g.58696724G>T | c.436G>T | p.E146* | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| RAD51C E146* | loss of function - predicted | Olaparib |