NFKB1 (P19838) variants and mutations

NFKB1 (also known as P19838) is a human protein-coding gene encoding a nuclear factor NF-kappa-B p105 subunit protein. It produces p105 and the p50 NF-kappaB subunit, which regulate transcriptional responses to immune receptors, cytokines, and cellular stress. Haploinsufficiency can cause common-variable-immunodeficiency-like disease with recurrent infection, autoimmunity, and variable lymphoproliferation. This analysis covers 610 NFKB1 variants and mutations. Of these, 44% have computational variant effect predictions. Disease context includes common variable immunodeficiency, primary biliary cholangitis, and immunodeficiency disease. Example NFKB1 variants include M1V, E3K, and D4N.

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 NFKB1 variants

Examples include M1V, E3K, D4N, D4E, D5Y, D5N, P6S, P6P. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.