NSD1 (Q96L73) variants and mutations

NSD1 (also known as Q96L73) is a human protein-coding gene encoding a histone-lysine N-methyltransferase, H3 lysine-36 specific protein. It regulates developmental transcription through chromatin modification, including H3K36 methylation. Haploinsufficiency causes Sotos syndrome with childhood overgrowth, characteristic facial features, and developmental delay, while somatic rearrangements occur in some leukemias. This analysis covers 4,996 NSD1 variants and mutations. Of these, 51% have computational variant effect predictions. Disease context includes Sotos syndrome, Beckwith-Wiedemann syndrome, and acute myeloid leukemia. Example NSD1 variants include D2E, D2D, and Q3H.

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, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable NSD1 variants

Examples include D2E, D2D, Q3H, Q3E, T4N, T4S, C5R, C5Y. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.