RNF215 (RING finger protein 215) variants and mutations

RNF215 (also known as RING finger protein 215) is a human protein-coding gene encoding a RING finger protein 215 protein. A multi-pass membrane protein whose normal molecular function remains incompletely characterized. Its membrane localization suggests that it may participate in membrane-protein stability or trafficking, but its specific cellular pathways and physiological functions remain uncertain. This analysis covers 1,013 RNF215 variants and mutations. Of these, 100% have computational variant effect predictions. Disease context includes cervical carcinoma, sarcoidosis, and Abdominal Aortic Aneurysm. Example RNF215 variants include M1I, M1T, and M1V.

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, PharmGKB, MaveDB, LitVar.

Notable RNF215 variants

Examples include M1I, M1T, M1V, G2E, G2G, G2R, G2S, P3L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.