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 | FBXW7 |
Variant | R505S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FBXW7 R505S lies within WD repeat 4 of the Fbxw7 protein (UniProt.org). R505S is predicted to disrupt the substrate binding by structural modeling (PMID: 34817806), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jun 2025). |
Associated Drug Resistance | |
Category Variants Paths |
FBXW7 mutant FBXW7 R505S |
Transcript | NM_001349798.2 |
gDNA | chr4:g.152326137G>T |
cDNA | c.1513C>A |
Protein | p.R505S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |