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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 |