VCAN (Versican core protein) variants and mutations

VCAN (also known as Versican core protein) is a human protein-coding gene encoding a versican core protein. It provides a large hydrated extracellular-matrix scaffold that regulates cell adhesion, migration, tissue mechanics, and development. Pathogenic variants can cause Wagner vitreoretinopathy, while altered expression and processing are important in cardiovascular remodeling, inflammation, and cancer. This analysis covers 4,677 VCAN variants and mutations. Of these, 68% have computational variant effect predictions. Disease context includes Wagner disease, Abnormality of the skeletal system, and diverticular disease. Example VCAN variants include F2L, F2F, and N4D.

Variant analysis overview

Gene: VCAN
Protein: Versican core protein
UniProt accession: P13611
Organism: Homo sapiens
Variants analyzed: 4677
Variant scope: all variants
Completed: 2026-08-22

Variant and mutation evidence

Variant composition: 4,368 unspecified-consequence records; 152 missense variants; 146 synonymous variants; 3 stop-gained variants; 3 in-frame deletions; 1 in-frame insertions; 3 frameshift variants; 1 splice-region variants; 1 substitution
Prediction scores: 3,184 variants have prediction scores (68% of the analyzed set).

Clinical, disease, and population context

Disease context: 25 disease associations are represented. Top associations: Wagner disease, Abnormality of the skeletal system, diverticular disease, Retinal dystrophy, hereditary disease, eye disorder, abdominal aortic aneurysm, aortic aneurysm, carpal tunnel syndrome, Stickler syndrome, post term pregnancy, myopia 25, autosomal dominant.

Protein structure and variant hotspots

Protein features: 7 domains; 37 post-translational modification sites.
Structural context: 909 variants have structural context.
PTM context: 47 variants overlap post-translational modification sites.

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, MaveDB, LitVar.

Notable VCAN variants

Examples include F2L, F2F, N4D, I5M, I5T, I5V, I5L, K6E. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.

VCAN analysis run — VCAN (4,677 variants) — completed 2026-08-22