SUFU (Suppressor of fused homolog) variants and mutations

SUFU (also known as Suppressor of fused homolog) is a human protein-coding gene encoding a suppressor of fused homolog protein. It restrains GLI transcription factors and thereby keeps Hedgehog signaling off when pathway activation is absent. Germline loss-of-function variants predispose particularly to infant desmoplastic medulloblastoma and can also cause developmental Hedgehog-pathway phenotypes. This analysis covers 1,156 SUFU variants and mutations. Of these, 70% have computational variant effect predictions. Disease context includes medulloblastoma, nevoid basal cell carcinoma syndrome, and Joubert syndrome 32. Example SUFU variants include M1?, M1K, and A2E.

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 SUFU variants

Examples include M1?, M1K, A2E, A2V, A2S, A2A, E3A, E3D. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.