SETBP1 (SET-binding protein) variants and mutations

SETBP1 (also known as SET-binding protein) is a human protein-coding gene encoding a SET-binding protein. It regulates transcription and protein-phosphatase signaling in development and hematopoiesis. Specific gain-of-function variants cause Schinzel-Giedion syndrome, somatic hotspot variants occur in aggressive myeloid neoplasms, and loss-of-function variants can cause a distinct speech and developmental disorder. This analysis covers 2,534 SETBP1 variants and mutations. Of these, 70% have computational variant effect predictions. Disease context includes Schinzel-Giedion syndrome, intellectual disability, autosomal dominant 29, and chronic myelogenous leukemia, BCR-ABL1 positive. Example SETBP1 variants include E2K, E2D, and E2E.

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, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable SETBP1 variants

Examples include E2K, E2D, E2E, S3C, S3S, R4G, R4R, R4M. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.