NBN (Nibrin) variants and mutations

NBN (also known as Nibrin) is a human protein-coding gene encoding a nibrin protein. It recruits and organizes the MRE11-RAD50 complex at DNA double-strand breaks and helps activate ATM-dependent DNA-damage responses. Biallelic loss-of-function variants cause Nijmegen breakage syndrome with microcephaly, immunodeficiency, chromosome instability, and high cancer risk. This analysis covers 2,307 NBN variants and mutations. Of these, 78% have computational variant effect predictions. Disease context includes neurodegenerative disease, migraine disorder, and gastric cancer. Example NBN variants include M1I, M1T, and W2*.

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, ClinGen, MaveDB, LitVar.

Notable NBN variants

Examples include M1I, M1T, W2*, W2C, W2S, W2X, K3*, K3N. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.