F8 (Coagulation factor VIII) variants and mutations

F8 (also known as Coagulation factor VIII) is a human protein-coding gene encoding a coagulation factor VIII protein. After activation, it acts as a cofactor for factor IXa and greatly accelerates factor X activation during coagulation. Loss-of-function variants cause X-linked hemophilia A, with bleeding severity determined largely by residual factor VIII activity. This analysis covers 2,859 F8 variants and mutations. Of these, 82% have computational variant effect predictions. Disease context includes hemophilia A, hemophilia, and hemophilia B. Example F8 variants include M1K, Q2P, and Q2Q.

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 F8 variants

Examples include M1K, Q2P, Q2Q, Q2E, I3T, I3K, I3V, I3I. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.