SLC47A1 (Q96FL8) variants and mutations

SLC47A1 (also known as Q96FL8) is a human protein-coding gene encoding a multidrug and toxin extrusion protein 1 protein. It uses proton gradients to secrete organic cations from renal and hepatic cells into urine or bile. Its activity influences elimination and drug interactions for compounds such as metformin. This analysis covers 918 SLC47A1 variants and mutations. Of these, 82% have computational variant effect predictions. Disease context includes neurodegenerative disease, brain aneurysm, and gout. Example SLC47A1 variants include E2Q, E2*, and E2K.

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 SLC47A1 variants

Examples include E2Q, E2*, E2K, E2G, E2E, A3T, A3V, A3S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.