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 | E92D |
| Impact List | missense |
| Protein Effect | no effect - predicted |
| Gene Variant Descriptions | RAD51C E92D lies within a region of the Rad51c protein required for Holliday junction resolution activity and the RAD51B, RAD51D, and XRCC3-interacting region (UniProt.org). E92D maintains functional homology-directed DNA repair activity in cell culture reporter assays, and demonstrates binding to Rad51d and Xrcc3 similar to wild-type Rad51c in a yeast assay (PMID: 42625895), and therefore, is predicted to have no effect on Rad51c protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
RAD51C mutant RAD51C E92D |
| Transcript | NM_058216.3 |
| gDNA | chr17:g.58695061G>C |
| cDNA | c.276G>C |
| Protein | p.E92D |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_047436505.1 | chr17:g.58695061G>C | c.276G>C | p.E92D | RefSeq | GRCh38/hg38 |
| NM_002876.4 | chr17:g.58695061G>C | c.276G>C | p.E92D | RefSeq | GRCh38/hg38 |
| XM_006722002.5 | chr17:g.58695061G>C | c.276G>C | p.E92D | RefSeq | GRCh38/hg38 |
| XM_006722001.5 | chr17:g.58695061G>C | c.276G>C | p.E92D | RefSeq | GRCh38/hg38 |
| NM_058216.3 | chr17:g.58695061G>C | c.276G>C | p.E92D | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| RAD51C E92D | no effect - predicted |