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Gene | RAD51C |
Variant | R312W |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | RAD51C R312W does not lie within any known functional domains of the Rad51c protein (UniProt.org). R312W retains binding with Rad51b and Xrcc3, however, results in a loss of Rad51c function as indicated by failure to rescue mitomycin C hypersensitivity and cell cycle arrest (PMID: 28829762), defects in homologous recombination repair (PMID: 28829762, PMID: 36099300), and failure to rescue survival in Rad51c-null cells in culture (PMID: 36099300). |
Associated Drug Resistance | |
Category Variants Paths |
RAD51C mutant RAD51C inact mut RAD51C R312W |
Transcript | NM_058216.3 |
gDNA | chr17:g.58724069C>T |
cDNA | c.934C>T |
Protein | p.R312W |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_058216 | chr17:g.58724069C>T | c.934C>T | p.R312W | RefSeq | GRCh38/hg38 |
XM_006722001.4 | chr17:g.58724069C>T | c.934C>T | p.R312W | RefSeq | GRCh38/hg38 |
XM_006722002.4 | chr17:g.58732513_58732515delAGAinsTGG | c.934_936delAGAinsTGG | p.R312W | RefSeq | GRCh38/hg38 |
XM_006722002 | chr17:g.58732513_58732515delAGAinsTGG | c.934_936delAGAinsTGG | p.R312W | RefSeq | GRCh38/hg38 |
NM_058216.3 | chr17:g.58724069C>T | c.934C>T | p.R312W | RefSeq | GRCh38/hg38 |
NM_058216.2 | chr17:g.58724069C>T | c.934C>T | p.R312W | RefSeq | GRCh38/hg38 |
XM_006722001.5 | chr17:g.58724069C>T | c.934C>T | p.R312W | RefSeq | GRCh38/hg38 |
XM_006722002.5 | chr17:g.58732513_58732515delAGAinsTGG | c.934_936delAGAinsTGG | p.R312W | RefSeq | GRCh38/hg38 |
XM_006722001 | chr17:g.58724069C>T | c.934C>T | p.R312W | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
RAD51C R312W | Advanced Solid Tumor | sensitive | Cisplatin | Preclinical - Cell culture | Actionable | In a preclinical study, the expression of RAD51C R312W sensitized RAD51C-deficient cells to Platinol (cisplatin) treatment in culture, resulting in decreased cell proliferation (PMID: 37253112). | 37253112 |
RAD51C R312W | Advanced Solid Tumor | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, the expression of RAD51C R312W sensitized RAD51C-deficient cells to Lynparza (olaparib) treatment in culture, resulting in decreased cell proliferation (PMID: 37253112). | 37253112 |