IKZF1 (DNA-binding protein Ikaros) variants and mutations

IKZF1 (also known as DNA-binding protein Ikaros) is a human protein-coding gene encoding a DNA-binding protein Ikaros protein. It establishes transcriptional programs required for lymphoid development, especially B-cell differentiation. Somatic deletion or mutation is common in high-risk B-cell acute lymphoblastic leukemia, while germline variants can cause immunodeficiency and leukemia predisposition. This analysis covers 1,702 IKZF1 variants and mutations. Of these, 38% have computational variant effect predictions. Disease context includes pancytopenia due to IKZF1 mutations, acute lymphoblastic leukemia, and immunodeficiency disease. Example IKZF1 variants include M1?, D2N, and D2Y.

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 IKZF1 variants

Examples include M1?, D2N, D2Y, D2H, D2G, A3P, A3T, A3V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.