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 | RAD51D |
Variant | C119R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | RAD51D C119R does not lie within any known functional domains of the Rad51d protein (UniProt.org). C119R has been identified in the scientific literature (PMID: 22415235, PMID: 24130102), but has not been biochemically characterized and therefore, its effect on Rad51d protein function is unknown (PubMed, Oct 2024). |
Associated Drug Resistance | |
Category Variants Paths |
RAD51D mutant RAD51D C119R |
Transcript | NM_002878.4 |
gDNA | chr17:g.35107113A>G |
cDNA | c.355T>C |
Protein | p.C119R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002878.4 | chr17:g.35107113A>G | c.355T>C | p.C119R | RefSeq | GRCh38/hg38 |
NM_002878.3 | chr17:g.35107113A>G | c.355T>C | p.C119R | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|