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| Gene | RAD51C |
| Variant | R214C |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | RAD51C R214C does not lie within any known functional domains of the Rad51c protein (UniProt.org). R214C results in decreased interaction with Xrcc3 and Rad51b in a yeast-two-hybrid assay in one study (PMID: 21980511), but in another study binds to Rad51b, Rad51d, and Xrcc3 to similar levels of wild-type protein in a yeast assay (PMID: 36099300) and demonstrates homology-directed repair activity in cultured cells (PMID: 37253112), and therefore, its effect on Rad51c protein function is unknown. |
| Associated Drug Resistance | |
| Category Variants Paths |
RAD51C mutant RAD51C R214C |
| Transcript | NM_058216.3 |
| gDNA | chr17:g.58703264C>T |
| cDNA | c.640C>T |
| Protein | p.R214C |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_006722002.5 | chr17:g.58703264C>T | c.640C>T | p.R214C | RefSeq | GRCh38/hg38 |
| NM_058216.2 | chr17:g.58703264C>T | c.640C>T | p.R214C | RefSeq | GRCh38/hg38 |
| XM_006722002.4 | chr17:g.58703264C>T | c.640C>T | p.R214C | RefSeq | GRCh38/hg38 |
| NM_058216.3 | chr17:g.58703264C>T | c.640C>T | p.R214C | RefSeq | GRCh38/hg38 |
| XM_006722001 | chr17:g.58703264C>T | c.640C>T | p.R214C | RefSeq | GRCh38/hg38 |
| XM_047436505.1 | chr17:g.58703264C>T | c.640C>T | p.R214C | RefSeq | GRCh38/hg38 |
| NM_058216 | chr17:g.58703264C>T | c.640C>T | p.R214C | RefSeq | GRCh38/hg38 |
| XM_006722001.4 | chr17:g.58703264C>T | c.640C>T | p.R214C | RefSeq | GRCh38/hg38 |
| XM_006722002 | chr17:g.58703264C>T | c.640C>T | p.R214C | RefSeq | GRCh38/hg38 |
| XM_006722001.5 | chr17:g.58703264C>T | c.640C>T | p.R214C | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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