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| Gene | RAD51C |
| Variant | F164S |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | RAD51C F164S does not lie within any known functional domains of the Rad51c protein (UniProt.org). F164S confers a loss of function to Rad51c as demonstrated by impaired ability to rescue survival of RAD51C-deficient cells upon treatment with mitomycin c, topoisomerase II and PARP inhibitors, and hydroxyurea, increased levels of single strand DNA, reduced Rad51 foci formation, defective replication fork protection, and increased chromosome breaks in culture (PMID: 36562461), and decreased survival in a high-throughput cell culture assay (PMID: 39299233). |
| Associated Drug Resistance | |
| Category Variants Paths |
RAD51C mutant RAD51C inact mut RAD51C F164S |
| Transcript | NM_058216.3 |
| gDNA | chr17:g.58696779T>C |
| cDNA | c.491T>C |
| Protein | p.F164S |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_058216.3 | chr17:g.58696779T>C | c.491T>C | p.F164S | RefSeq | GRCh38/hg38 |
| XM_006722002.5 | chr17:g.58696779T>C | c.491T>C | p.F164S | RefSeq | GRCh38/hg38 |
| XM_047436505.1 | chr17:g.58696779T>C | c.491T>C | p.F164S | RefSeq | GRCh38/hg38 |
| XM_006722001.5 | chr17:g.58696779T>C | c.491T>C | p.F164S | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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