APOE (Apolipoprotein E) variants and mutations

APOE (also known as Apolipoprotein E) is a human protein-coding gene encoding an apolipoprotein E protein. It redistributes cholesterol and other lipids between tissues by directing remnant lipoproteins to LDL-receptor-family members. The common epsilon4 isoform strongly increases late-onset Alzheimer disease risk and also influences plasma lipids and cardiovascular risk. This analysis covers 678 APOE variants and mutations. Of these, 90% have computational variant effect predictions. Disease context includes hyperlipoproteinemia type 3, coronary artery disorder, and lipoprotein glomerulopathy. Example APOE variants include K2E, K2Q, and K2K.

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 APOE variants

Examples include K2E, K2Q, K2K, K2R, V3F, L4L, W5*, W5G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.