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Gene | RAD51C |
Variant | G125S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | RAD51C G125S lies within a region of the Rad51c protein required for Holliday junction resolution activity and the RAD51B, RAD51D, and XRCC3-interacting region (UniProt.org). The effect of G125S is conflicting as it results in decreased interaction with Rad51b, Rad51d, and Xrcc3 in a yeast assay and reduced homologous recombination (HR) activity in one cell line but proficient HR activity in another cell line, and rescues survival in RAD51C-null cells in culture (PMID: 36099300). |
Associated Drug Resistance | |
Category Variants Paths |
RAD51C mutant RAD51C G125S |
Transcript | NM_058216.3 |
gDNA | chr17:g.58695158G>A |
cDNA | c.373G>A |
Protein | p.G125S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002876.4 | chr17:g.58695158G>A | c.373G>A | p.G125S | RefSeq | GRCh38/hg38 |
XM_047436505.1 | chr17:g.58695158G>A | c.373G>A | p.G125S | RefSeq | GRCh38/hg38 |
XM_006722002.5 | chr17:g.58695158G>A | c.373G>A | p.G125S | RefSeq | GRCh38/hg38 |
XM_006722001.5 | chr17:g.58695158G>A | c.373G>A | p.G125S | RefSeq | GRCh38/hg38 |
NM_058216.3 | chr17:g.58695158G>A | c.373G>A | p.G125S | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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