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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

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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_058216.3 chr17:g.58734188G>A c.1097G>A p.R366Q RefSeq GRCh38/hg38
NM_058216 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

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References