REL (Proto-oncogene c-Rel) variants and mutations

REL (also known as Proto-oncogene c-Rel) is a human protein-coding gene encoding a proto-oncogene c-Rel protein. It provides the c-Rel NF-kappaB transcription factor, which regulates lymphocyte activation, survival, cytokine production, and immune differentiation. Amplification or persistent activation contributes to several lymphoid malignancies and inflammatory states. This analysis covers 278 REL variants and mutations. Of these, 96% have computational variant effect predictions. Disease context includes immunodeficiency 92, rheumatoid arthritis, and psoriasis. Example REL variants include A2S, A2T, and A2D.

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, MaveDB, LitVar.

Notable REL variants

Examples include A2S, A2T, A2D, A2V, A2A, S3P, S3Y, S3S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.