APOC3 (Apolipoprotein C-III) variants and mutations

APOC3 (also known as Apolipoprotein C-III) is a human protein-coding gene encoding an apolipoprotein C-III protein. It raises plasma triglycerides by inhibiting lipoprotein-lipase-mediated lipolysis and slowing hepatic clearance of triglyceride-rich particles. Loss-of-function variants are associated with lower triglycerides and reduced coronary-disease risk, making APOC3 inhibition a therapeutic strategy for severe hypertriglyceridemia. This analysis covers 257 APOC3 variants and mutations. Of these, 95% have computational variant effect predictions. Disease context includes apolipoprotein c-III deficiency, hypertriglyceridemia, and coronary artery disorder. Example APOC3 variants include M1?, Q2Q, and P3L.

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 APOC3 variants

Examples include M1?, Q2Q, P3L, P3S, P3P, R4G, R4Q, R4W. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.