SERPINC1 (Antithrombin-III) variants and mutations

SERPINC1 (also known as Antithrombin-III) is a human protein-coding gene encoding an antithrombin-III protein. It neutralizes thrombin and several activated coagulation proteases and is greatly accelerated by heparin-like molecules. Heterozygous deficiency causes a strong inherited predisposition to venous thrombosis and can reduce responsiveness to heparin. This analysis covers 844 SERPINC1 variants and mutations. Of these, 84% have computational variant effect predictions. Disease context includes hereditary antithrombin deficiency, Reduced antithrombin III activity, and Venous thrombosis. Example SERPINC1 variants include M1I, Y2*, and Y2H.

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 SERPINC1 variants

Examples include M1I, Y2*, Y2H, S3F, N4S, N4T, V5A, V5M. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.