FGFR4 (P22455) variants and mutations

FGFR4 (also known as P22455) is a human protein-coding gene encoding a fibroblast growth factor receptor 4 protein. It transmits fibroblast-growth-factor signals involved in metabolism, tissue repair, development, and cell proliferation, with FGF19 as an important metabolic ligand. Aberrant signaling can support tumor growth, and activating alterations are therapeutic targets in selected cancers. This analysis covers 2,024 FGFR4 variants and mutations. Of these, 53% have computational variant effect predictions. Disease context includes cancer, urothelial carcinoma, and rhabdomyosarcoma. Example FGFR4 variants include R2Q, R2W, and R2R.

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.

Notable FGFR4 variants

Examples include R2Q, R2W, R2R, R2L, L3V, L3M, L3L, p.Leu5del. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.