RBM10 (RNA-binding protein 10) variants and mutations

RBM10 (also known as RNA-binding protein 10) is a human protein-coding gene encoding a RNA-binding protein 10 protein. It regulates alternative pre-mRNA splicing and influences expression of proteins controlling cell growth, apoptosis, and differentiation. Loss-of-function variants cause TARP syndrome, while somatic inactivation is recurrent in lung adenocarcinoma and other cancers. This analysis covers 3,837 RBM10 variants and mutations. Of these, 21% have computational variant effect predictions. Disease context includes TARP syndrome, lung adenocarcinoma, and neurodegenerative disease. Example RBM10 variants include M1?, E2D, and E2G.

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 RBM10 variants

Examples include M1?, E2D, E2G, E2K, E2Q, E2V, Y3*, Y3C. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.