IRF4 (Interferon regulatory factor 4) variants and mutations

IRF4 (also known as Interferon regulatory factor 4) is a human protein-coding gene encoding an interferon regulatory factor 4 protein. It controls differentiation and function of B cells, plasma cells, T cells, and other immune lineages in a context-dependent manner. Germline variants can cause immunodeficiency, while rearrangements or abnormal expression drive several lymphoid malignancies. This analysis covers 915 IRF4 variants and mutations. Of these, 64% have computational variant effect predictions. Disease context includes B-cell chronic lymphocytic leukemia, melanoma, and plasma cell myeloma. Example IRF4 variants include M1R, N2S, and N2K.

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, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable IRF4 variants

Examples include M1R, N2S, N2K, L3V, L3M, L3L, E4*, E4G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.