KEGG   VARIANT: 287v1
Entry
287v1                      Variant                                 
Name
ANK2 mutation
Type
Loss of function
Gene
ANK2  ankyrin 2 [KO:K09255]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 106410
Network
nt06546  IgSF CAM signaling
Disease
H00720  Long QT syndrome
Reference
  Authors
Mohler PJ, Le Scouarnec S, Denjoy I, Lowe JS, Guicheney P, Caron L, Driskell IM, Schott JJ, Norris K, Leenhardt A, Kim RB, Escande D, Roden DM
  Title
Defining the cellular phenotype of "ankyrin-B syndrome" variants: human ANK2 variants associated with clinical phenotypes display a spectrum of activities in  cardiomyocytes.
  Journal
Circulation 115:432-41 (2007)
DOI:10.1161/CIRCULATIONAHA.106.656512
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