CRBN (Protein cereblon) variants and mutations

CRBN (also known as Protein cereblon) is a human protein-coding gene encoding a protein cereblon protein. It determines substrate recognition for the CRL4-CRBN ubiquitin ligase and thereby controls degradation of selected cellular proteins. Thalidomide and related drugs bind CRBN and redirect the ligase toward new substrates, a mechanism central to their therapeutic and teratogenic effects. This analysis covers 716 CRBN variants and mutations. Of these, 81% have computational variant effect predictions. Disease context includes plasma cell myeloma, autosomal recessive non-syndromic intellectual disability, and myelodysplastic syndrome. Example CRBN variants include A2P, A2S, and A2V.

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 CRBN variants

Examples include A2P, A2S, A2V, G3C, G3D, G3R, G3S, E4Q. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.