APOC2 (Apolipoprotein C-II) variants and mutations

APOC2 (also known as Apolipoprotein C-II) is a human protein-coding gene encoding an apolipoprotein C-II protein. By activating lipoprotein lipase, it enables hydrolysis of triglycerides in chylomicrons and very-low-density lipoproteins. Biallelic deficiency causes familial chylomicronemia with extreme hypertriglyceridemia and recurrent pancreatitis. This analysis covers 240 APOC2 variants and mutations. Of these, 82% have computational variant effect predictions. Disease context includes familial apolipoprotein C-II deficiency, Hyperlipoproteinemia type 1, and Abnormality of the cardiovascular system. Example APOC2 variants include G2D, G2R, and G2S.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

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 APOC2 variants

Examples include G2D, G2R, G2S, G2G, T3I, T3A, R4*, R4G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.