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| Gene | RAD51C |
| Variant | H316Y |
| Impact List | missense |
| Protein Effect | no effect - predicted |
| Gene Variant Descriptions | RAD51C H316Y does not lie within any known functional domains of the Rad51c protein (UniProt.org). H316Y maintains functional homology-directed DNA repair activity in cell culture reporter assays, and demonstrates binding to Rad51d and Xrcc3 similar to wild-type Rad51c in a yeast assay (PMID: 42625895), and therefore, is predicted to have no effect on Rad51c protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
RAD51C mutant RAD51C H316Y |
| Transcript | NM_058216.3 |
| gDNA | chr17:g.58724081C>T |
| cDNA | c.946C>T |
| Protein | p.H316Y |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_058216.3 | chr17:g.58724081C>T | c.946C>T | p.H316Y | RefSeq | GRCh38/hg38 |
| XM_006722001.5 | chr17:g.58724081C>T | c.946C>T | p.H316Y | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|