KEGG   VARIANT: 805v1
Entry
805v1                      Variant                                 
Name
CALM2 mutation
Type
Loss of function
Gene
CALM2  calmodulin 2 [KO:K02183]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 114182
Network
nt06528  Calcium signaling
Disease
H00720  Long QT syndrome
Reference
PMID:36496072
  Authors
Prakash O, Gupta N, Milburn A, McCormick L, Deugi V, Fisch P, Wyles J, Thomas NL, Antonyuk S, Dart C, Helassa N
  Title
Calmodulin variant E140G associated with long QT syndrome impairs CaMKIIdelta autophosphorylation and L-type calcium channel inactivation.
  Journal
J Biol Chem 299:102777 (2023)
DOI:10.1016/j.jbc.2022.102777
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