ITGB3 (Integrin beta-3) variants and mutations

ITGB3 (also known as Integrin beta-3) is a human protein-coding gene encoding an integrin beta-3 protein. In platelets it pairs with ITGA2B to bind fibrinogen and mediate aggregation, while in other cells it forms integrins involved in matrix adhesion and signaling. Biallelic loss-of-function variants cause Glanzmann thrombasthenia. This analysis covers 1,138 ITGB3 variants and mutations. Of these, 77% have computational variant effect predictions. Disease context includes Glanzmann thrombasthenia 1, Glanzmann thrombasthenia, and bleeding disorder, platelet-type, 24. Example ITGB3 variants include M1L, M1T, and R2P.

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 ITGB3 variants

Examples include M1L, M1T, R2P, R2Q, R2R, R2*, R2L, A3E. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.