F7 (Coagulation factor VII) variants and mutations

F7 (also known as Coagulation factor VII) is a human protein-coding gene encoding a coagulation factor VII protein. It binds tissue factor at sites of vascular injury and initiates coagulation by activating factors IX and X. Biallelic deficiency causes a rare bleeding disorder with highly variable severity, while recombinant activated factor VII is used therapeutically in selected bleeding conditions. This analysis covers 522 F7 variants and mutations. Of these, 78% have computational variant effect predictions. Disease context includes factor VII deficiency, congenital factor VII deficiency, and hemophilia B. Example F7 variants include M1T, V2F, and V2I.

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, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable F7 variants

Examples include M1T, V2F, V2I, V2V, S3P, S3Y, S3S, Q4K. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.