NFKB2 (Q00653) variants and mutations

NFKB2 (also known as Q00653) is a human protein-coding gene encoding a nuclear factor NF-kappa-B p100 subunit protein. Processing of its p100 precursor generates p52 for the noncanonical NF-kappaB pathway, which is important for lymphoid-organ development and B-cell biology. Pathogenic variants can cause common variable immunodeficiency with endocrine and autoimmune abnormalities. This analysis covers 1,020 NFKB2 variants and mutations. Of these, 78% have computational variant effect predictions. Disease context includes immunodeficiency, common variable, 10, common variable immunodeficiency, and immunodeficiency disease. Example NFKB2 variants include M1N, E2K, and E2E.

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 NFKB2 variants

Examples include M1N, E2K, E2E, S3I, S3N, S3S, C4R, C4C. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.