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Gene | RAD51C |
Variant | L138F |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | RAD51C L138F does not lie within any known functional domains of the Rad51c protein (UniProt.org). L138F is conflicting as it demonstrates homologous recombination activity similar to wild-type Rad51c in one cell line but deficient activity in another cell line, and rescues survival in Rad51c-null cells in culture (PMID: 36099300), but results in a loss of interaction with Rad51b, Rad51d, and Xrcc3 in a yeast assay (PMID: 36099300), decreased Rad51 foci formation in cell culture, and failure to rescue mitomycin C hypersensitivity (PMID: 20400964), and therefore, its effect on Rad51c protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
RAD51C mutant RAD51C L138F |
Transcript | NM_058216.3 |
gDNA | chr17:g.58696702G>T |
cDNA | c.414G>T |
Protein | p.L138F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |