CD3D (P04234) variants and mutations

CD3D (also known as P04234) is a human protein-coding gene encoding a t-cell surface glycoprotein CD3 delta chain protein. Within the T-cell receptor complex, it transmits antigen-recognition signals into developing and mature T cells. Biallelic loss-of-function variants can cause severe combined immunodeficiency or related T-cell immunodeficiency. This analysis covers 391 CD3D variants and mutations. Of these, 98% have computational variant effect predictions. Disease context includes immunodeficiency 19, plasma cell myeloma, and neoplasm. Example CD3D variants include E2G, E2K, and H3H.

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 CD3D variants

Examples include E2G, E2K, H3H, H3N, S4N, T5M, L7F, S8P. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.