SERPINE1 (P05121) variants and mutations

SERPINE1 (also known as P05121) is a human protein-coding gene encoding a plasminogen activator inhibitor 1 protein. It suppresses fibrinolysis by inhibiting tissue- and urokinase-type plasminogen activators. Excess activity favors thrombosis and fibrosis, whereas biallelic loss-of-function variants can cause a rare bleeding disorder with excessive fibrinolysis. This analysis covers 741 SERPINE1 variants and mutations. Of these, 93% have computational variant effect predictions. Disease context includes congenital plasminogen activator inhibitor type 1 deficiency, venous thromboembolism, and coronary artery disorder. Example SERPINE1 variants include Q2*, Q2R, and M3I.

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 SERPINE1 variants

Examples include Q2*, Q2R, M3I, S4C, S4P, P5T, P5L, A6S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.