ICOS (Inducible T-cell costimulator) variants and mutations

ICOS (also known as Inducible T-cell costimulator) is a human protein-coding gene encoding an inducible T-cell costimulator protein. It provides costimulatory signals to activated T cells, particularly supporting T-follicular-helper cells, germinal-center responses, and cytokine production. Biallelic loss-of-function variants can cause common-variable-immunodeficiency-like disease with defective antibody responses. This analysis covers 421 ICOS variants and mutations. Of these, 82% have computational variant effect predictions. Disease context includes immunodeficiency, common variable, 1, common variable immunodeficiency, and hypothyroidism. Example ICOS variants include K2*, K2R, and S3P.

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, MaveDB, LitVar.

Notable ICOS variants

Examples include K2*, K2R, S3P, S3S, G4C, G4D, G4V, G4G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.