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 | D108Y |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | RAD51C D108Y lies within the region required for Holliday junction resolution activity and the Rad51b, Rad51d, and Xrcc3-interacting region of the Rad51c protein (UniProt.org). D108Y results in variable interaction with Rad51b, Rad51d, and Xrcc3 in a yeast assay but demonstrates homologous recombination activity similar to wild-type Rad51c and rescues survival in Rad51c-null cells in culture (PMID: 36099300), and therefore, is predicted to have no effect on Rad51c protein function. |
Associated Drug Resistance | |
Category Variants Paths |
RAD51C mutant RAD51C D108Y |
Transcript | NM_058216.3 |
gDNA | chr17:g.58695107G>T |
cDNA | c.322G>T |
Protein | p.D108Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006722002.4 | chr17:g.58695107G>T | c.322G>T | p.D108Y | RefSeq | GRCh38/hg38 |
XM_006722001.5 | chr17:g.58695107G>T | c.322G>T | p.D108Y | RefSeq | GRCh38/hg38 |
NM_058216.3 | chr17:g.58695107G>T | c.322G>T | p.D108Y | RefSeq | GRCh38/hg38 |
XM_047436505.1 | chr17:g.58695107G>T | c.322G>T | p.D108Y | RefSeq | GRCh38/hg38 |
XM_006722001.4 | chr17:g.58695107G>T | c.322G>T | p.D108Y | RefSeq | GRCh38/hg38 |
XM_006722002.5 | chr17:g.58695107G>T | c.322G>T | p.D108Y | RefSeq | GRCh38/hg38 |
NM_058216.2 | chr17:g.58695107G>T | c.322G>T | p.D108Y | RefSeq | GRCh38/hg38 |
NM_002876.4 | chr17:g.58695107G>T | c.322G>T | p.D108Y | RefSeq | GRCh38/hg38 |
NM_002876.3 | chr17:g.58695107G>T | c.322G>T | p.D108Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
RAD51C D108Y | no effect - predicted |