BTK (Tyrosine-protein kinase BTK) variants and mutations

BTK (also known as Tyrosine-protein kinase BTK) is a human protein-coding gene encoding a tyrosine-protein kinase protein. It relays B-cell-receptor signals needed for B-cell maturation, survival, and activation. Loss-of-function variants cause X-linked agammaglobulinemia, while pharmacologic inhibition is highly effective in several B-cell malignancies. This analysis covers 1,261 BTK variants and mutations. Of these, 38% have computational variant effect predictions. Disease context includes X-linked agammaglobulinemia, isolated growth hormone deficiency type III, and Non-acquired isolated growth hormone deficiency. Example BTK variants include M1I, M1T, and A2G.

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 BTK variants

Examples include M1I, M1T, A2G, A2S, A2V, A3Q, A3S, A3T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.