KEGG   VARIANT: 6262v1
Entry
6262v1                      Variant                                
Name
RYR2 mutation
Type
Loss of function
Gene
RYR2  ryanodine receptor 2 [KO:K04962]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 180902
Network
nt06528  Calcium signaling
Disease
H00293  Arrhythmogenic right ventricular cardiomyopathy
Reference
  Authors
Fowler ED, Zissimopoulos S
  Title
Molecular, Subcellular, and Arrhythmogenic Mechanisms in Genetic RyR2 Disease.
  Journal
Biomolecules 12:biom12081030 (2022)
DOI:10.3390/biom12081030
Reference
  Authors
Dulhunty AF
  Title
Molecular Changes in the Cardiac RyR2 With Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT).
  Journal
Front Physiol 13:830367 (2022)
DOI:10.3389/fphys.2022.830367
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