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 | A126T |
| Impact List | missense |
| Protein Effect | no effect |
| Gene Variant Descriptions | RAD51C A126T lies within the Rad51b, Rad51d, and Xrcc3-interaction region of the Rad51c protein (UniProt.org). A126T demonstrates rescue of mitomycin C hypersensitivity and Rad51 foci formation similar to wild-type Rad51c in culture (PMID: 20400964), binds to Rad51b, Rad51d, and Xrcc3 to similar levels of wild-type protein in a yeast assay, and demonstrates homologous recombination activity similar to wild-type Rad51c in cultured cells (PMID: 36099300). |
| Associated Drug Resistance | |
| Category Variants Paths |
RAD51C mutant RAD51C A126T |
| Transcript | NM_058216.3 |
| gDNA | chr17:g.58695161G>A |
| cDNA | c.376G>A |
| Protein | p.A126T |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_006722002.5 | chr17:g.58695161G>A | c.376G>A | p.A126T | RefSeq | GRCh38/hg38 |
| XM_006722002.4 | chr17:g.58695161G>A | c.376G>A | p.A126T | RefSeq | GRCh38/hg38 |
| XM_006722001 | chr17:g.58695161G>A | c.376G>A | p.A126T | RefSeq | GRCh38/hg38 |
| NM_002876.4 | chr17:g.58695161G>A | c.376G>A | p.A126T | RefSeq | GRCh38/hg38 |
| NM_002876.3 | chr17:g.58695161G>A | c.376G>A | p.A126T | RefSeq | GRCh38/hg38 |
| XM_047436505.1 | chr17:g.58695161G>A | c.376G>A | p.A126T | RefSeq | GRCh38/hg38 |
| NM_002876 | chr17:g.58695161G>A | c.376G>A | p.A126T | RefSeq | GRCh38/hg38 |
| NM_058216 | chr17:g.58695161G>A | c.376G>A | p.A126T | RefSeq | GRCh38/hg38 |
| NM_058216.2 | chr17:g.58695161G>A | c.376G>A | p.A126T | RefSeq | GRCh38/hg38 |
| XM_006722001.5 | chr17:g.58695161G>A | c.376G>A | p.A126T | RefSeq | GRCh38/hg38 |
| XM_006722001.4 | chr17:g.58695161G>A | c.376G>A | p.A126T | RefSeq | GRCh38/hg38 |
| XM_006722002 | chr17:g.58695161G>A | c.376G>A | p.A126T | RefSeq | GRCh38/hg38 |
| NM_058216.3 | chr17:g.58695161G>A | c.376G>A | p.A126T | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
|---|