NCSTN (Nicastrin) variants and mutations

NCSTN (also known as Nicastrin) is a human protein-coding gene encoding a nicastrin protein. An essential subunit of the gamma-secretase complex, an intramembrane protease that processes proteins such as Notch receptors and APP. Through this complex it contributes to cell-signaling pathways and has relevance to skin disease and amyloid biology. This analysis covers 905 NCSTN variants and mutations. Of these, 98% have computational variant effect predictions. Disease context includes acne inversa, familial, 1, neurodegenerative disease, and Desmoid-type fibromatosis. Example NCSTN variants include A2T, A2V, and T3M.

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, PharmGKB, MaveDB, LitVar.

Notable NCSTN variants

Examples include A2T, A2V, T3M, T3A, T3T, A4T, G5A, G5E. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.