Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | RAD51C |
Variant | K131I |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | RAD51C K131I lies within the Rad51b, Rad51d, and Xrcc3-interacting region of the Rad51c protein (UniProt.org). K131I results in loss of interaction with Xrcc2, Xrcc3, and Rad51d, decreased colony formation, reduced Rad51 foci formation, and decreased homology-directed DNA repair activity compared to wild-type Rad51c in culture (PMID: 37253112). |
Associated Drug Resistance | |
Category Variants Paths |
RAD51C mutant RAD51C inact mut RAD51C K131I |
Transcript | NM_058216.3 |
gDNA | chr17:g.58695177A>T |
cDNA | c.392A>T |
Protein | p.K131I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006722002.5 | chr17:g.58695177A>T | c.392A>T | p.K131I | RefSeq | GRCh38/hg38 |
XM_047436505.1 | chr17:g.58695177A>T | c.392A>T | p.K131I | RefSeq | GRCh38/hg38 |
NM_058216.2 | chr17:g.58695177A>T | c.392A>T | p.K131I | RefSeq | GRCh38/hg38 |
XM_006722001.5 | chr17:g.58695177A>T | c.392A>T | p.K131I | RefSeq | GRCh38/hg38 |
XM_006722001.4 | chr17:g.58695177A>T | c.392A>T | p.K131I | RefSeq | GRCh38/hg38 |
XM_006722002.4 | chr17:g.58695177A>T | c.392A>T | p.K131I | RefSeq | GRCh38/hg38 |
NM_058216.3 | chr17:g.58695177A>T | c.392A>T | p.K131I | RefSeq | GRCh38/hg38 |
NM_002876.4 | chr17:g.58695177A>T | c.392A>T | p.K131I | RefSeq | GRCh38/hg38 |
NM_002876.3 | chr17:g.58695177A>T | c.392A>T | p.K131I | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
RAD51C K131I | Advanced Solid Tumor | sensitive | Cisplatin | Preclinical - Cell culture | Actionable | In a preclinical study, the expression of RAD51C K131I sensitized RAD51C-deficient cells to Platinol (cisplatin) treatment in culture, resulting in decreased cell proliferation (PMID: 37253112). | 37253112 |
RAD51C K131I | osteosarcoma | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, the expression of RAD51C K131I sensitized RAD51C-null osteosarcoma cells to Lynparza (olaparib) treatment in culture, resulting in decreased cell survival (PMID: 37253112). | 37253112 |
RAD51C K131I | Advanced Solid Tumor | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, the expression of RAD51C K131I sensitized RAD51C-deficient cells to Lynparza (olaparib) treatment in culture, resulting in decreased cell proliferation (PMID: 37253112). | 37253112 |