F12 (Coagulation factor XII) variants and mutations

F12 (also known as Coagulation factor XII) is a human protein-coding gene encoding a coagulation factor XII protein. It initiates contact-system activation when blood encounters negatively charged surfaces and contributes to intrinsic coagulation and kallikrein-kinin signaling. Severe deficiency markedly prolongs laboratory clotting tests but usually does not cause bleeding. This analysis covers 1,094 F12 variants and mutations. Of these, 86% have computational variant effect predictions. Disease context includes congenital factor XII deficiency, hereditary angioedema type 3, and Reduced factor XII activity. Example F12 variants include A3V, L5P, and L7R.

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 F12 variants

Examples include A3V, L5P, L7R, F9L, L10P, V12L, S13N, L14S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.