GATA1 (Erythroid transcription factor) variants and mutations

GATA1 (also known as Erythroid transcription factor) is a human protein-coding gene encoding an erythroid transcription factor protein. It directs erythroid and megakaryocytic differentiation by activating lineage-specific genes and suppressing alternative hematopoietic programs. Germline variants can cause anemia and thrombocytopenia syndromes, while acquired N-terminal mutations are characteristic of transient abnormal myelopoiesis and myeloid leukemia in Down syndrome. This analysis covers 859 GATA1 variants and mutations. Of these, 66% have computational variant effect predictions. Disease context includes thrombocytopenia, X-linked, with or without dyserythropoietic anemia, X-linked dyserythropoetic anemia with abnormal platelets and neutropenia, and Diamond-Blackfan anemia. Example GATA1 variants include M1I, M1T, and E2D.

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, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable GATA1 variants

Examples include M1I, M1T, E2D, F3L, F3V, P4L, P4S, G5S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.