VIM (Vimentin) variants and mutations

VIM (also known as Vimentin) is a human protein-coding gene encoding a vimentin protein. It forms intermediate filaments that provide structural resilience and organize organelles in mesenchymal and migratory cells. Altered expression is a hallmark of epithelial-to-mesenchymal transition and tissue injury, while rare pathogenic variants can cause cataract or other tissue-specific phenotypes. This analysis covers 1,040 VIM variants and mutations. Of these, 75% have computational variant effect predictions. Disease context includes dengue disease, early-onset non-syndromic cataract, and Partial congenital cataract. Example VIM variants include M1?, S2P, and S2S.

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 VIM variants

Examples include M1?, S2P, S2S, T3N, T3A, T3T, R4G, R4K. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.