KEGG   VARIANT: 7414v1
Entry
7414v1                      Variant                                
Name
VCL mutation
Type
Loss of function
Gene
VCL  vinculin isoform meta-VCL [KO:K05700]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 193065
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00292  Hypertrophic cardiomyopathy
H00294  Dilated cardiomyopathy
Reference
PMID:16712796
  Authors
Vasile VC, Ommen SR, Edwards WD, Ackerman MJ
  Title
A missense mutation in a ubiquitously expressed protein, vinculin, confers susceptibility to hypertrophic cardiomyopathy.
  Journal
Biochem Biophys Res Commun 345:998-1003 (2006)
DOI:10.1016/j.bbrc.2006.04.151
Reference
PMID:11815424
  Authors
Olson TM, Illenberger S, Kishimoto NY, Huttelmaier S, Keating MT, Jockusch BM
  Title
Metavinculin mutations alter actin interaction in dilated cardiomyopathy.
  Journal
Circulation 105:431-7 (2002)
DOI:10.1161/hc0402.102930
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