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Gene | RAD51C |
Variant | G302V |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | RAD51C G302V does not lie within any known functional domains of the Rad51c protein (UniProt.org). G302V binds to Rad51d and Xrcc2 and supports cell proliferation to similar levels as wild-type Rad51c, but results in loss of interaction with Xrcc3, altered Rad51 foci formation, and reduced homology-directed DNA repair activity in culture (PMID: 37253112), and therefore, is predicted to lead to a loss of Rad51c protein function. |
Associated Drug Resistance | |
Category Variants Paths |
RAD51C mutant RAD51C inact mut RAD51C G302V |
Transcript | NM_058216.3 |
gDNA | chr17:g.58724040G>T |
cDNA | c.905G>T |
Protein | p.G302V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_058216.3 | chr17:g.58724040G>T | c.905G>T | p.G302V | RefSeq | GRCh38/hg38 |
XM_006722002.5 | chr17:g.58732484G>T | c.905G>T | p.G302V | RefSeq | GRCh38/hg38 |
NM_058216.2 | chr17:g.58724040G>T | c.905G>T | p.G302V | RefSeq | GRCh38/hg38 |
XM_006722001.5 | chr17:g.58724040G>T | c.905G>T | p.G302V | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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