HMGCR (P04035) variants and mutations

HMGCR (also known as P04035) is a human protein-coding gene encoding a 3-hydroxy-3-methylglutaryl-coenzyme A reductase protein. It controls the rate-limiting step of the mevalonate pathway and therefore strongly regulates endogenous cholesterol production. Statins lower LDL cholesterol by inhibiting this activity, causing the liver to increase LDL-receptor-mediated clearance from blood. This analysis covers 981 HMGCR variants and mutations. Of these, 73% have computational variant effect predictions. Disease context includes Hypercholesterolemia, hyperlipidemia, and coronary artery disorder. Example HMGCR variants include L2L, S3L, and S3*.

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 HMGCR variants

Examples include L2L, S3L, S3*, R4T, R4G, L5L, F6S, R7*. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.