F2 (Prothrombin) variants and mutations

F2 (also known as Prothrombin) is a human protein-coding gene encoding a prothrombin protein. After cleavage to thrombin, it converts fibrinogen to fibrin and activates multiple additional coagulation components to amplify clot formation. Deficiency can cause bleeding, whereas the common G20210A variant raises prothrombin levels and increases venous-thrombosis risk. This analysis covers 874 F2 variants and mutations. Of these, 78% have computational variant effect predictions. Disease context includes congenital prothrombin deficiency, Congenital factor II deficiency, and thrombophilia due to thrombin defect. Example F2 variants include M1L, M1I, and A2T.

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 F2 variants

Examples include M1L, M1I, A2T, A2V, A2A, A2P, A2S, A2D. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.