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 | E80* |
Impact List | nonsense |
Protein Effect | loss of function |
Gene Variant Descriptions | RAD51C E80* results in a premature truncation of the Rad51c protein at amino acid 80 of 376 (UniProt.org). E80* confers a loss of function to the Rad51c protein as indicated by decreased binding to Rad51b, Xrcc3, and Rad51d in yeast two-hybrid assays (PMID: 14704354). |
Associated Drug Resistance | |
Category Variants Paths |
RAD51C mutant RAD51C inact mut RAD51C E80* |
Transcript | NM_058216.3 |
gDNA | chr17:g.58695023G>T |
cDNA | c.238G>T |
Protein | p.E80* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |