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Gene | RAD51C |
Variant | T121R |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | RAD51C T121R lies within the region required for Holliday junction resolution activity and the Rad51b, Rad51d, and Xrcc3-interacting region of the Rad51c protein (UniProt.org). T121R results in decreased interaction with Rad51b, Rad51d, and Xrcc3 in a yeast assay, reduced homologous recombination activity compared to wild-type Rad51c in cultured cells, and failure to rescue survival in Rad51c-null cells in culture (PMID: 36099300). |
Associated Drug Resistance | |
Category Variants Paths |
RAD51C mutant RAD51C inact mut RAD51C T121R |
Transcript | NM_058216.3 |
gDNA | chr17:g.58695147C>G |
cDNA | c.362C>G |
Protein | p.T121R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |