ABCB1 (ATP-dependent translocase ABCB1) variants and mutations

ABCB1 (also known as ATP-dependent translocase ABCB1) is a human protein-coding gene encoding an ATP-dependent translocase protein. It uses ATP to export a broad range of drugs and xenobiotics across intestinal, hepatic, renal, blood-brain-barrier, and other membranes. Its activity strongly influences drug absorption and tissue exposure and can contribute to multidrug resistance in cancer. This analysis covers 2,420 ABCB1 variants and mutations. Of these, 56% have computational variant effect predictions. Disease context includes response to tramadol, encephalopathy, acute transient, and acute myeloid leukemia. Example ABCB1 variants include D2E, D2G, and D2H.

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 ABCB1 variants

Examples include D2E, D2G, D2H, D2N, G5A, G5V, D6H, D6Y. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.