ANGPTL3 (Angiopoietin-related protein 3) variants and mutations

ANGPTL3 (also known as Angiopoietin-related protein 3) is a human protein-coding gene encoding an angiopoietin-related protein 3 protein. It restrains lipoprotein and endothelial lipases, thereby increasing circulating triglyceride and HDL-cholesterol levels. Loss-of-function variants produce familial combined hypolipidemia and are associated with lower atherosclerotic cardiovascular risk, making the pathway a therapeutic target. This analysis covers 872 ANGPTL3 variants and mutations. Of these, 82% have computational variant effect predictions. Disease context includes familial hypobetalipoproteinemia 2, Hypercholesterolemia, and familial hypercholesterolemia. Example ANGPTL3 variants include F2I, F2F, and T3A.

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 ANGPTL3 variants

Examples include F2I, F2F, T3A, T3T, I4V, L6P, L6F, L7R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.