ABCC1 (P33527) variants and mutations

ABCC1 (also known as P33527) is a human protein-coding gene encoding a multidrug resistance-associated protein 1 protein. Its annotated function is mediates export of organic anions and drugs from the cytoplasm. It is annotated at the cell membrane. This analysis covers 1,867 ABCC1 variants and mutations. Of these, 76% have computational variant effect predictions. Disease context includes Abnormality of the skeletal system, hearing loss, autosomal dominant 77, and hereditary breast carcinoma. Example ABCC1 variants include A2T, A2P, and A2S.

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 ABCC1 variants

Examples include A2T, A2P, A2S, A2G, A2V, A2E, A2A, L3I. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.