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Gene | RAD51C |
Variant | L27P |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | RAD51C L27P lies within the region of the Rad51c protein required for Holliday junction resolution activity (UniProt.org). L27P binds to Rad51b, Rad51d, and Xrcc3 to similar levels as wild-type protein in a yeast assay, however, results in reduced homologous recombination activity compared to wild-type Rad51c in cultured cells (PMID: 36099300), 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 L27P |
Transcript | NM_058216.3 |
gDNA | chr17:g.58692723T>C |
cDNA | c.80T>C |
Protein | p.L27P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002876.3 | chr17:g.58692723T>C | c.80T>C | p.L27P | RefSeq | GRCh38/hg38 |
NM_058216.3 | chr17:g.58692723T>C | c.80T>C | p.L27P | RefSeq | GRCh38/hg38 |
XM_006722002.5 | chr17:g.58692723T>C | c.80T>C | p.L27P | RefSeq | GRCh38/hg38 |
NM_002876.4 | chr17:g.58692723T>C | c.80T>C | p.L27P | RefSeq | GRCh38/hg38 |
XM_047436505.1 | chr17:g.58692723T>C | c.80T>C | p.L27P | RefSeq | GRCh38/hg38 |
NM_058216.2 | chr17:g.58692723T>C | c.80T>C | p.L27P | RefSeq | GRCh38/hg38 |
XM_006722001.4 | chr17:g.58692723T>C | c.80T>C | p.L27P | RefSeq | GRCh38/hg38 |
XM_006722002.4 | chr17:g.58692723T>C | c.80T>C | p.L27P | RefSeq | GRCh38/hg38 |
XM_006722001.5 | chr17:g.58692723T>C | c.80T>C | p.L27P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
RAD51C L27P | Advanced Solid Tumor | sensitive | Cisplatin | Preclinical - Cell culture | Actionable | In a preclinical study, the expression of RAD51C L27P sensitized RAD51C-deficient cells to Platinol (cisplatin) treatment in culture, resulting in decreased cell proliferation (PMID: 37253112). | 37253112 |
RAD51C L27P | Advanced Solid Tumor | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, the expression of RAD51C L27P sensitized RAD51C-deficient cells to Lynparza (olaparib) treatment in culture, resulting in decreased cell proliferation (PMID: 37253112). | 37253112 |