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Gene | RAD51C |
Variant | V140E |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | RAD51C V140E does not lie within any known functional domains of the Rad51c protein (UniProt.org). V140E results in loss of interaction with Xrcc2, Xrcc3, and Rad51d, decreased Rad51 foci formation, and reduced homology-directed DNA repair activity compared to wild-type Rad51c in culture (PMID: 37253112). |
Associated Drug Resistance | |
Category Variants Paths |
RAD51C mutant RAD51C inact mut RAD51C V140E |
Transcript | NM_058216.3 |
gDNA | chr17:g.58696707T>A |
cDNA | c.419T>A |
Protein | p.V140E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006722002.5 | chr17:g.58696707T>A | c.419T>A | p.V140E | RefSeq | GRCh38/hg38 |
NM_058216.2 | chr17:g.58696707T>A | c.419T>A | p.V140E | RefSeq | GRCh38/hg38 |
XM_006722001.5 | chr17:g.58696707T>A | c.419T>A | p.V140E | RefSeq | GRCh38/hg38 |
NM_058216.3 | chr17:g.58696707T>A | c.419T>A | p.V140E | RefSeq | GRCh38/hg38 |
XM_006722002.4 | chr17:g.58696707T>A | c.419T>A | p.V140E | RefSeq | GRCh38/hg38 |
XM_006722001.4 | chr17:g.58696707T>A | c.419T>A | p.V140E | RefSeq | GRCh38/hg38 |
XM_047436505.1 | chr17:g.58696707T>A | c.419T>A | p.V140E | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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