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 | L226P |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | RAD51C L226P does not lie within any known functional domains of the Rad51c protein (UniProt.org). L226P results in decreased interaction with Rad51b, Rad51d, and Xrcc3 in a yeast assay and reduced homologous recombination activity compared to wild-type Rad51c in cultured cells (PMID: 36099300). |
Associated Drug Resistance | |
Category Variants Paths |
RAD51C mutant RAD51C inact mut RAD51C L226P |
Transcript | NM_058216.3 |
gDNA | chr17:g.58703301T>C |
cDNA | c.677T>C |
Protein | p.L226P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006722002.4 | chr17:g.58703301T>C | c.677T>C | p.L226P | RefSeq | GRCh38/hg38 |
NM_058216.2 | chr17:g.58703301T>C | c.677T>C | p.L226P | RefSeq | GRCh38/hg38 |
XM_006722002.5 | chr17:g.58703301T>C | c.677T>C | p.L226P | RefSeq | GRCh38/hg38 |
XM_047436505.1 | chr17:g.58703301T>C | c.677T>C | p.L226P | RefSeq | GRCh38/hg38 |
NM_058216.3 | chr17:g.58703301T>C | c.677T>C | p.L226P | RefSeq | GRCh38/hg38 |
XM_006722001.5 | chr17:g.58703301T>C | c.677T>C | p.L226P | RefSeq | GRCh38/hg38 |
XM_006722001.4 | chr17:g.58703301T>C | c.677T>C | p.L226P | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|