DTX1 (E3 ubiquitin-protein ligase DTX1) variants and mutations

DTX1 (also known as E3 ubiquitin-protein ligase DTX1) is a human protein-coding gene encoding an e3 ubiquitin-protein ligase protein. It modifies Notch and other signaling proteins through ubiquitination and helps tune lymphocyte activation and differentiation. Somatic loss-of-function alterations are recurrent in B-cell lymphomas and can disturb normal immune-signaling programs. This analysis covers 1,095 DTX1 variants and mutations. Of these, 96% have computational variant effect predictions. Disease context includes Abnormality of the skeletal system, myocardial infarction, and liver disorder. Example DTX1 variants include S2L, S2P, and R3G.

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, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable DTX1 variants

Examples include S2L, S2P, R3G, R3Q, R3W, R3R, R3P, P4A. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.