RNF207 (RING finger protein 207) variants and mutations

RNF207 (also known as RING finger protein 207) is a human protein-coding gene encoding a RING finger protein 207 protein. A protein involved in cardiac repolarization that may help stabilize the KCNH2/hERG channel at the membrane. It may also assist channel synthesis, folding, or export from the endoplasmic reticulum, connecting RNF207 to electrical signaling in the heart. This analysis covers 1,083 RNF207 variants and mutations. Of these, 93% have computational variant effect predictions. Disease context includes atrial fibrillation, artificial cardiac pacemaker, and hypertrophic cardiomyopathy. Example RNF207 variants include S2W, S2A, and S2*.

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 RNF207 variants

Examples include S2W, S2A, S2*, S2L, S2S, G3A, G3*, G3R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.