PDGFRB (P09619) variants and mutations

PDGFRB (also known as P09619) is a human protein-coding gene encoding a platelet-derived growth factor receptor beta protein. Its signaling supports pericytes, vascular smooth-muscle cells, and other mesenchymal lineages during growth and tissue repair. Oncogenic fusions drive myeloid neoplasms, while germline activating or loss-of-function variants can cause developmental and vascular disorders. This analysis covers 2,184 PDGFRB variants and mutations. Of these, 61% have computational variant effect predictions. Disease context includes Basal ganglia calcification, bilateral striopallidodentate calcinosis, and myofibromatosis, infantile, 1. Example PDGFRB variants include R2G, R2Q, and R2W.

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 PDGFRB variants

Examples include R2G, R2Q, R2W, L3F, L3H, L3P, L3V, P4A. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.