CD19 (B-lymphocyte antigen CD19) variants and mutations

CD19 (also known as B-lymphocyte antigen CD19) is a human protein-coding gene encoding a b-lymphocyte antigen protein. It amplifies B-cell receptor signaling and helps set the threshold for B-cell activation throughout much of B-cell development. Loss-of-function variants can cause antibody deficiency, while its lineage-restricted surface expression makes it a major target for monoclonal antibodies and CAR-T therapy. This analysis covers 852 CD19 variants and mutations. Of these, 87% have computational variant effect predictions. Disease context includes immunodeficiency, common variable, 3, diffuse large B-cell lymphoma, and common variable immunodeficiency. Example CD19 variants include P2L, P2S, and P3T.

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 CD19 variants

Examples include P2L, P2S, P3T, P3S, P3P, P4S, p.Pro4del, P4P. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.