CARD11 (Q9BXL7) variants and mutations

CARD11 (also known as Q9BXL7) is a human protein-coding gene encoding a caspase recruitment domain-containing protein 11 protein. It assembles the CARD11-BCL10-MALT1 signaling complex after antigen-receptor activation, allowing lymphocytes to activate NF-kappaB and related pathways. Gain-of-function variants cause lymphoproliferative disease, while loss-of-function or dominant-negative variants can cause immunodeficiency or severe atopy. This analysis covers 2,253 CARD11 variants and mutations. Of these, 78% have computational variant effect predictions. Disease context includes severe combined immunodeficiency due to CARD11 deficiency, BENTA disease, and immunodeficiency 11b with atopic dermatitis. Example CARD11 variants include M1I, P2T, and G3E.

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 CARD11 variants

Examples include M1I, P2T, G3E, G3R, G5R, P6R, P6T, E7Q. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.