ABCC1 (P33527) variants and mutations

ABCC1 (also known as P33527) is a human protein-coding gene encoding a multidrug resistance-associated protein 1 protein. An ATP-powered transporter that exports glutathione, glucuronide, and sulfate conjugates. It contributes to cellular detoxification and can affect how tumor cells respond to drugs. 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

Gene: ABCC1
Protein: P33527
UniProt accession: P33527
Organism: Homo sapiens
Variants analyzed: 1867
Variant scope: all variants
Completed: 2026-08-28

Variant and mutation evidence

Variant composition: 1,701 unspecified-consequence records; 92 missense variants; 53 synonymous variants; 12 frameshift variants; 5 stop-gained variants; 2 in-frame deletions; 1 splice-region variants; 1 substitution
Prediction scores: 1,417 variants have prediction scores (76% of the analyzed set).

Clinical, disease, and population context

Disease context: 25 disease associations are represented. Top associations: Abnormality of the skeletal system, hearing loss, autosomal dominant 77, hereditary breast carcinoma, Hereditary breast cancer, autosomal dominant nonsyndromic hearing loss, alcohol drinking, ischemic stroke, diaphragm disorder, Abnormality of prenatal development or birth, nonsyndromic deafness, neurodegenerative disease, neoplasm.

Protein structure and variant hotspots

Protein features: 17 transmembrane segments; 4 domains; 4 binding sites; 9 post-translational modification sites.
Structural context: 1,279 variants have structural context.
PTM context: 12 variants overlap post-translational modification sites.

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.

Diseases linked to ABCC1

Hearing loss genes and variants

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.

ABCC1 analysis run — ABCC1 (1,867 variants) — completed 2026-08-28