KEGG   VARIANT: 8557v2
Entry
8557v2                      Variant                                
Name
TCAP mutation
Type
Gain of function
Gene
TCAP  titin-cap [KO:K19879]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 604488
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00292  Hypertrophic cardiomyopathy
Reference
  Authors
Kimura A
  Title
Molecular etiology and pathogenesis of hereditary cardiomyopathy.
  Journal
Circ J 72 Suppl A:A38-48 (2008)
DOI:10.1253/circj.cj-08-0050
Reference
  Authors
Hayashi T, Arimura T, Itoh-Satoh M, Ueda K, Hohda S, Inagaki N, Takahashi M, Hori H, Yasunami M, Nishi H, Koga Y, Nakamura H, Matsuzaki M, Choi BY, Bae SW, You CW, Han KH, Park JE, Knoll R, Hoshijima M, Chien KR, Kimura A
  Title
Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy.
  Journal
J Am Coll Cardiol 44:2192-201 (2004)
DOI:10.1016/j.jacc.2004.08.058
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