FGFR3 (P22607) variants and mutations

FGFR3 (also known as P22607) is a human protein-coding gene encoding a fibroblast growth factor receptor 3 protein. It normally restrains growth-plate chondrocyte proliferation while regulating multiple developmental pathways. Activating germline variants cause achondroplasia and related skeletal dysplasias, while somatic activating alterations are common in bladder cancer and some other tumors. This analysis covers 2,779 FGFR3 variants and mutations. Of these, 55% have computational variant effect predictions. Disease context includes achondroplasia, thanatophoric dysplasia type 1, and Severe achondroplasia - developmental delay - acanthosis nigricans. Example FGFR3 variants include M1I, G2C, and G2S.

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, ClinGen, MaveDB, LitVar.

Notable FGFR3 variants

Examples include M1I, G2C, G2S, G2R, G2V, G2D, G2G, A3P. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.