WT1 (Wilms tumor protein) variants and mutations

WT1 (also known as Wilms tumor protein) is a human protein-coding gene encoding a wilms tumor protein. It controls transcriptional programs required for kidney and gonadal development and also restrains or promotes cell growth in a context-dependent manner. Germline pathogenic variants cause Wilms-tumor predisposition and Denys-Drash or Frasier syndromes, while somatic alterations occur in some leukemias. This analysis covers 104 WT1 variants and mutations. Of these, 84% have computational variant effect predictions. Disease context includes Denys-Drash syndrome, Wilms tumor 1, and Frasier syndrome. Example WT1 variants include D7A, A131T, and R145S.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable WT1 variants

Examples include D7A, A131T, R145S, P181S, S223N, G253A, S273G, L281P. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.