LIPC (Hepatic triacylglycerol lipase) variants and mutations

LIPC (also known as Hepatic triacylglycerol lipase) is a human protein-coding gene encoding a hepatic triacylglycerol lipase protein. It hydrolyzes triglycerides and phospholipids in HDL and remnant particles at the liver surface, helping remodel circulating lipoproteins. Loss-of-function variants can raise HDL cholesterol and alter remnant metabolism, with variable effects on atherosclerotic risk. This analysis covers 979 LIPC variants and mutations. Of these, 79% have computational variant effect predictions. Disease context includes hyperlipidemia due to hepatic triglyceride lipase deficiency, age-related macular degeneration, and Hypercholesterolemia. Example LIPC variants include D2E, D2N, and D2V.

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, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable LIPC variants

Examples include D2E, D2N, D2V, D2Y, T3A, T3I, T3K, T3T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.