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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 |