KEGG   VARIANT: 1462v1
Entry
1462v1                      Variant                                
Name
VCAN mutation
Type
Loss of function
Gene
VCAN  versican [KO:K06793]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 118661
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00805  Vitreoretinal degeneration
Reference
  Authors
Mukhopadhyay A, Nikopoulos K, Maugeri A, de Brouwer AP, van Nouhuys CE, Boon CJ, Perveen R, Zegers HA, Wittebol-Post D, van den Biesen PR, van der Velde-Visser SD, Brunner HG, Black GC, Hoyng CB, Cremers FP
  Title
Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.
  Journal
Invest Ophthalmol Vis Sci 47:3565-72 (2006)
DOI:10.1167/iovs.06-0141
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