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| Gene | RAD51C |
| Variant | T336P |
| Impact List | missense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | RAD51C T336P does not lie within any known functional domains of the Rad51c protein (UniProt.org). T336P retains binding with Rad51b and Xrcc3 (PMID: 36099300, PMID: 37253112), but results in variable interaction with Rad51d in a yeast assay (PMID: 36099300), demonstrates lack of binding to Rad51d and Xrcc2 and results in decreased Rad51c homology-directed repair (HDR) activity compared to wild-type Rad51c in culture (PMID: 37253112), and therefore, is predicted to lead to a loss of Rad51c protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
RAD51C mutant RAD51C inact mut RAD51C T336P |
| Transcript | NM_058216.3 |
| gDNA | chr17:g.58732524A>C |
| cDNA | c.1006A>C |
| Protein | p.T336P |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_058216.3 | chr17:g.58732524A>C | c.1006A>C | p.T336P | RefSeq | GRCh38/hg38 |
| NM_058216.2 | chr17:g.58732524A>C | c.1006A>C | p.T336P | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| RAD51C T336P | loss of function - predicted |