IRAK1 (P51617) variants and mutations

IRAK1 (also known as P51617) is a human protein-coding gene encoding an interleukin-1 receptor-associated kinase 1 protein. It relays signals from Toll-like and IL-1 family receptors to NF-kappaB and MAPK pathways, helping initiate innate inflammatory responses. Dysregulated activation contributes to autoimmunity and some cancers, and the kinase is under investigation as a therapeutic target. This analysis covers 840 IRAK1 variants and mutations. Of these, 81% have computational variant effect predictions. Disease context includes myelofibrosis, primary myelofibrosis, and systemic lupus erythematosus. Example IRAK1 variants include A2S, P5R, and P5T.

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 IRAK1 variants

Examples include A2S, P5R, P5T, P7L, P7S, G8E, E9A, E9G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.