NKX2-1 (Homeobox protein Nkx-2.1) variants and mutations

NKX2-1 (also known as Homeobox protein Nkx-2.1) is a human protein-coding gene encoding a homeobox protein Nkx-2.1 protein. It controls developmental and tissue-specific gene programs in lung, thyroid, and basal ganglia. Haploinsufficiency causes brain-lung-thyroid syndrome, variably combining chorea or developmental movement disorder, neonatal respiratory disease, and thyroid dysfunction. This analysis covers 1,196 NKX2-1 variants and mutations. Of these, 36% have computational variant effect predictions. Disease context includes brain-lung-thyroid syndrome, Benign familial chorea, and choreatic disease. Example NKX2-1 variants include M1?, S2L, and M3I.

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 NKX2-1 variants

Examples include M1?, S2L, M3I, M3R, M3V, S4N, K6N, K6T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.