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 | D108G |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | RAD51C D108G lies within the region required for Holliday junction resolution activity and the Rad51b, Rad51d, and Xrcc3-interacting region of the Rad51c protein (UniProt.org). D108G results in loss of interaction with Xrcc2, Xrcc3, and Rad51d, decreased Rad51 foci formation, and reduced homology-directed DNA repair activity compared to wild-type Rad51c in culture (PMID: 37253112). |
Associated Drug Resistance | |
Category Variants Paths |
RAD51C mutant RAD51C inact mut RAD51C D108G |
Transcript | NM_058216.3 |
gDNA | chr17:g.58695108A>G |
cDNA | c.323A>G |
Protein | p.D108G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006722001.5 | chr17:g.58695108A>G | c.323A>G | p.D108G | RefSeq | GRCh38/hg38 |
XM_047436505.1 | chr17:g.58695108A>G | c.323A>G | p.D108G | RefSeq | GRCh38/hg38 |
XM_006722001.4 | chr17:g.58695108A>G | c.323A>G | p.D108G | RefSeq | GRCh38/hg38 |
XM_006722002.5 | chr17:g.58695108A>G | c.323A>G | p.D108G | RefSeq | GRCh38/hg38 |
NM_058216.3 | chr17:g.58695108A>G | c.323A>G | p.D108G | RefSeq | GRCh38/hg38 |
XM_006722002.4 | chr17:g.58695108A>G | c.323A>G | p.D108G | RefSeq | GRCh38/hg38 |
NM_002876.4 | chr17:g.58695108A>G | c.323A>G | p.D108G | RefSeq | GRCh38/hg38 |
NM_058216.2 | chr17:g.58695108A>G | c.323A>G | p.D108G | RefSeq | GRCh38/hg38 |
NM_002876.3 | chr17:g.58695108A>G | c.323A>G | p.D108G | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|