TET2 (Methylcytosine dioxygenase TET2) variants and mutations

TET2 (also known as Methylcytosine dioxygenase TET2) is a human protein-coding gene encoding a methylcytosine dioxygenase protein. It oxidizes methylated cytosines and helps reshape DNA methylation during hematopoietic differentiation. Somatic loss-of-function variants are among the most common drivers of clonal hematopoiesis and occur frequently in myeloid malignancies. This analysis covers 5,473 TET2 variants and mutations. Of these, 53% have computational variant effect predictions. Disease context includes myelodysplastic syndrome, acute myeloid leukemia, and neoplasm. Example TET2 variants include E2D, E2E, and E2G.

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 TET2 variants

Examples include E2D, E2E, E2G, Q3H, Q3*, Q3R, Q3K, Q3P. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.