SLCO1B1 (Q9Y6L6) variants and mutations

SLCO1B1 (also known as Q9Y6L6) is a human protein-coding gene encoding a solute carrier organic anion transporter family member 1B1 protein. It mediates hepatic uptake of many organic anions and drugs from portal blood, strongly influencing their systemic clearance. Reduced-function variants can markedly increase exposure to certain statins, especially simvastatin, and raise the risk of statin-associated muscle toxicity. This analysis covers 1,248 SLCO1B1 variants and mutations. Of these, 93% have computational variant effect predictions. Disease context includes Rotor syndrome, response to statin, and Disorder of bilirubin metabolism and excretion. Example SLCO1B1 variants include M1?, D2E, and D2G.

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 SLCO1B1 variants

Examples include M1?, D2E, D2G, D2N, D2V, D2Y, Q3*, Q3K. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.