SLC22A1 (O15245) variants and mutations

SLC22A1 (also known as O15245) is a human protein-coding gene encoding a solute carrier family 22 member 1 protein. It mediates uptake of organic cations from portal blood into hepatocytes and influences clearance of multiple drugs. Functional variants can alter exposure or response to substrates such as metformin, although clinical effects are drug and allele dependent. This analysis covers 994 SLC22A1 variants and mutations. Of these, 83% have computational variant effect predictions. Disease context includes Hypercholesterolemia, coronary artery disorder, and metabolic disease. Example SLC22A1 variants include P2L, P2S, and P2T.

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 SLC22A1 variants

Examples include P2L, P2S, P2T, P2P, T3P, T3S, T3T, V4A. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.