KEAP1 (Q14145) variants and mutations

KEAP1 (also known as Q14145) is a human protein-coding gene encoding a kelch-like ECH-associated protein 1 protein. It continuously targets NRF2 for degradation under basal conditions but releases this brake when reactive electrophiles or oxidative stress modify KEAP1. Somatic loss-of-function variants can lock tumors into a persistent antioxidant state that promotes survival and treatment resistance. This analysis covers 3,139 KEAP1 variants and mutations. Of these, 25% have computational variant effect predictions. Disease context includes multiple sclerosis, lung adenocarcinoma, and relapsing-remitting multiple sclerosis. Example KEAP1 variants include Q2*, Q2E, and Q2H.

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 KEAP1 variants

Examples include Q2*, Q2E, Q2H, Q2L, Q2R, P3A, P3L, P3R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.