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Gene | RAD51C |
Variant | A308T |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | RAD51C A308T does not lie within any known functional domains of the Rad51c protein (UniProt.org). The functional effect of A308T is conflicting as it results in decreased interaction with Rad51d in a yeast assay and decreased homologous recombination (HR) activity in one cell line but demonstrates proficient HR activity in another cell line, rescues survival of RAD51C-null cells in culture, and retains interaction with Rad51b and Xrcc3 in a yeast assay (PMID: 36099300). |
Associated Drug Resistance | |
Category Variants Paths |
RAD51C mutant RAD51C A308T |
Transcript | NM_058216.3 |
gDNA | chr17:g.58724057G>A |
cDNA | c.922G>A |
Protein | p.A308T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006722001.5 | chr17:g.58724057G>A | c.922G>A | p.A308T | RefSeq | GRCh38/hg38 |
NM_058216.3 | chr17:g.58724057G>A | c.922G>A | p.A308T | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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