FGB (Fibrinogen beta chain) variants and mutations

FGB (also known as Fibrinogen beta chain) is a human protein-coding gene encoding a fibrinogen beta chain protein. It contributes the beta chains required for assembly and secretion of functional fibrinogen and subsequent fibrin-clot formation. Pathogenic variants can reduce fibrinogen quantity or alter clot properties, producing bleeding, thrombosis, or both. This analysis covers 886 FGB variants and mutations. Of these, 77% have computational variant effect predictions. Disease context includes congenital afibrinogenemia, familial dysfibrinogenemia, and Familial afibrinogenemia. Example FGB variants include K2*, K2E, and K2R.

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 FGB variants

Examples include K2*, K2E, K2R, K2I, K2K, K2N, R3S, R3K. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.