PDCD1 (Programmed cell death protein 1) variants and mutations

PDCD1 (also known as Programmed cell death protein 1) is a human protein-coding gene encoding a programmed cell death protein 1 protein. PDCD1 is an inhibitory receptor on activated T cells that binds PD-L1 and PD-L2. Its signaling helps maintain immune tolerance by restraining T-cell activation, making the protein important in autoimmunity and cancer immunotherapy. This analysis covers 903 PDCD1 variants and mutations. Of these, 74% have computational variant effect predictions. Disease context includes melanoma, non-small cell lung carcinoma, and renal cell carcinoma. Example PDCD1 variants include Q2*, Q5H, and Q5P.

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 PDCD1 variants

Examples include Q2*, Q5H, Q5P, Q5R, A6P, A6V, P9S, V11A. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.