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Gene | RAD51C |
Variant | R366Q |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | RAD51C R366Q does not lie within any known functional domains of the Rad51c protein (UniProt.org). R366Q results in Chk2 activation and Rad51 foci formation similar to wild-type in cell culture (PMID: 20400964) and interaction with Rad51b, Rad51d, and Xrcc3 similar to wild-type in yeast assays (PMID: 36099300), but leads to decreased nuclear localization and partial rescue of mitomycin C hypersensitivity in chicken cells (PMID: 29158291), moderately increased chromosomal aberrations, reduced G2/M accumulation and DNA synthesis in cultured cells, and a partial homologous recombination defect in a reporter assay (PMID: 22167183) and in cultured cells (PMID: 25292178), 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 R366Q |
Transcript | NM_058216.3 |
gDNA | chr17:g.58734188G>A |
cDNA | c.1097G>A |
Protein | p.R366Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_058216 | chr17:g.58734188G>A | c.1097G>A | p.R366Q | RefSeq | GRCh38/hg38 |
NM_058216.3 | chr17:g.58734188G>A | c.1097G>A | p.R366Q | RefSeq | GRCh38/hg38 |
NM_058216.2 | chr17:g.58734188G>A | c.1097G>A | p.R366Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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