HAVCR2 (Q8TDQ0) variants and mutations

HAVCR2 (also known as Q8TDQ0) is a human protein-coding gene encoding a hepatitis A virus cellular receptor 2 protein. It modulates activation and exhaustion of T cells and other immune cells in response to ligands in inflamed tissues. Biallelic loss-of-function variants can cause severe immune dysregulation with subcutaneous panniculitis-like T-cell lymphoma and hemophagocytic lymphohistiocytosis. This analysis covers 596 HAVCR2 variants and mutations. Of these, 80% have computational variant effect predictions. Disease context includes subcutaneous panniculitis-like T-cell lymphoma, neoplasm, and myelodysplastic syndrome. Example HAVCR2 variants include S3L, H4R, and L5F.

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 HAVCR2 variants

Examples include S3L, H4R, L5F, P6R, P6S, D8G, C9G, C9R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.