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Gene | RAD51C |
Variant | R249C |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | RAD51C R249C does not lie within any known functional domains of the Rad51c protein (UniProt.org). R249C binds to Rad51b, Rad51d, and Xrcc3 at similar levels as wild-type protein in a yeast assay, demonstrates homologous recombination activity similar to wild-type Rad51c in cultured cells, and rescues survival in Rad51c-null cells in culture (PMID: 36099300), and therefore, is predicted to have no effect on Rad51c protein function. |
Associated Drug Resistance | |
Category Variants Paths |
RAD51C mutant RAD51C R249C |
Transcript | NM_058216.3 |
gDNA | chr17:g.58709898C>T |
cDNA | c.745C>T |
Protein | p.R249C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |