Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
| Gene | RAD51C |
| Variant | Q143R |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | RAD51C Q143R does not lie within any known functional domains of the Rad51c protein (UniProt.org). Q143R confers a loss of function to the Rad51c protein as indicated by decreased Rad51 foci formation in cell culture (PMID: 22451500) and decreased interaction with Rad51b, Rad51c, and Xrcc3 in a yeast assay (PMID: 36099300). |
| Associated Drug Resistance | |
| Category Variants Paths |
RAD51C mutant RAD51C inact mut RAD51C Q143R |
| Transcript | NM_058216.3 |
| gDNA | chr17:g.58696716A>G |
| cDNA | c.428A>G |
| Protein | p.Q143R |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_006722001.4 | chr17:g.58696716A>G | c.428A>G | p.Q143R | RefSeq | GRCh38/hg38 |
| NM_058216.3 | chr17:g.58696716A>G | c.428A>G | p.Q143R | RefSeq | GRCh38/hg38 |
| NM_058216.2 | chr17:g.58696716A>G | c.428A>G | p.Q143R | RefSeq | GRCh38/hg38 |
| XM_006722001.5 | chr17:g.58696716A>G | c.428A>G | p.Q143R | RefSeq | GRCh38/hg38 |
| XM_006722002.5 | chr17:g.58696716A>G | c.428A>G | p.Q143R | RefSeq | GRCh38/hg38 |
| XM_047436505.1 | chr17:g.58696716A>G | c.428A>G | p.Q143R | RefSeq | GRCh38/hg38 |
| NM_058216 | chr17:g.58696716A>G | c.428A>G | p.Q143R | RefSeq | GRCh38/hg38 |
| XM_006722001 | chr17:g.58696716A>G | c.428A>G | p.Q143R | RefSeq | GRCh38/hg38 |
| XM_006722002 | chr17:g.58696716A>G | c.428A>G | p.Q143R | RefSeq | GRCh38/hg38 |
| XM_006722002.4 | chr17:g.58696716A>G | c.428A>G | p.Q143R | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|