FBXW7 (Q969H0) variants and mutations

FBXW7 (also known as Q969H0) is a human protein-coding gene encoding a f-box/WD repeat-containing protein 7 protein. The substrate-recognition component of an SCF ubiquitin ligase. It marks growth-promoting proteins such as MYC, cyclin E, and NOTCH for degradation, helping restrain cell growth. This analysis covers 3,191 FBXW7 variants and mutations. Of these, 25% have computational variant effect predictions. Disease context includes developmental delay, hypotonia, and impaired language, colorectal adenocarcinoma, and cervical squamous cell carcinoma. Example FBXW7 variants include N2D, N2K, and N2Y.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Diseases linked to FBXW7

Notable FBXW7 variants

Examples include N2D, N2K, N2Y, Q3*, Q3E, Q3H, Q3R, E4*. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.