CD274 (Programmed cell death 1 ligand 1) variants and mutations

CD274 (also known as Programmed cell death 1 ligand 1) is a human protein-coding gene encoding a programmed cell death 1 ligand 1 protein. By engaging PD-1, it suppresses activated T cells by engaging PD-1 and thereby limits immune-mediated tissue damage. Many cancers exploit high PD-L1 expression to evade immune attack, making the PD-1/PD-L1 axis a central target of immune-checkpoint therapy. This analysis covers 1,340 CD274 variants and mutations. Of these, 55% have computational variant effect predictions. Disease context includes non-small cell lung carcinoma, Merkel cell skin cancer, and small cell lung carcinoma. Example CD274 variants include R2S, R2T, and R2W.

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 CD274 variants

Examples include R2S, R2T, R2W, R2K, I3M, I3V, F4C, F4S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.