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| Gene | RAD51C |
| Variant | D318N |
| Impact List | missense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | RAD51C D318N does not lie within any known functional domains of the Rad51c protein (UniProt.org). D318N retains binding to Rad51d similar to wild-type Rad51c in a yeast assay, but demonstrates defective homology-directed DNA repair activity in cell culture (PMID: 40670332), 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 D318N |
| Transcript | NM_058216.3 |
| gDNA | chr17:g.58724087G>A |
| cDNA | c.952G>A |
| Protein | p.D318N |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_058216.3 | chr17:g.58724087G>A | c.952G>A | p.D318N | RefSeq | GRCh38/hg38 |
| XM_006722001.5 | chr17:g.58724087G>A | c.952G>A | p.D318N | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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