RBM20 (RNA-binding protein 20) variants and mutations

RBM20 (also known as RNA-binding protein 20) is a human protein-coding gene encoding a RNA-binding protein 20 protein. It directs cardiac alternative splicing of TTN and numerous calcium-handling and sarcomeric transcripts. Pathogenic variants can produce a highly arrhythmogenic form of dilated cardiomyopathy through widespread disruption of cardiac RNA processing. This analysis covers 2,055 RBM20 variants and mutations. Of these, 93% have computational variant effect predictions. Disease context includes dilated cardiomyopathy 1DD, dilated cardiomyopathy, and familial isolated dilated cardiomyopathy. Example RBM20 variants include V2A, V2L, and V2M.

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, ClinGen, MaveDB, LitVar.

Notable RBM20 variants

Examples include V2A, V2L, V2M, V2V, L3L, L3V, L3M, L3P. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.