IL4R (P24394) variants and mutations

IL4R (also known as P24394) is a human protein-coding gene encoding an interleukin-4 receptor subunit alpha protein. It transmits IL-4 and IL-13 signals that promote type 2 immunity, immunoglobulin class switching, and allergic inflammation. Gain-of-function or common regulatory variation can influence atopy, while therapeutic blockade is effective in diseases such as atopic dermatitis and asthma. This analysis covers 1,304 IL4R variants and mutations. Of these, 69% have computational variant effect predictions. Disease context includes asthma, atopic eczema, and Nasal polyposis. Example IL4R variants include M1?, G2R, and G2W.

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 IL4R variants

Examples include M1?, G2R, G2W, G2E, G2G, W3C, L4I, C5R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.