SLC22A6 (Q4U2R8) variants and mutations

SLC22A6 (also known as Q4U2R8) is a human protein-coding gene encoding a solute carrier family 22 member 6 protein. The renal organic-anion transporter OAT1, located on the basolateral membrane of proximal-tubule cells. It exchanges intracellular dicarboxylates for organic anions, helping remove drugs and metabolites from the blood through urine. This analysis covers 929 SLC22A6 variants and mutations. Of these, 76% have computational variant effect predictions. Disease context includes gout, Hypertension, and endothelial dysfunction. Example SLC22A6 variants include A2D, A2S, and A2T.

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 SLC22A6 variants

Examples include A2D, A2S, A2T, D5A, D5E, D5N, L6F, L6V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.