KEGG   VARIANT: 775v2
Entry
775v2                      Variant                                 
Name
CACNA1C gain-of-function mutation
Type
Gain of function
Gene
CACNA1C  calcium voltage-gated channel subunit alpha1 C [KO:K04850]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 114205
Network
nt06528  Calcium signaling
Disease
H00720  Long QT syndrome
Reference
PMID:34709746
  Authors
Chen L, He Y, Wang X, Ge J, Li H
  Title
Ventricular voltage-gated ion channels: Detection, characteristics, mechanisms, and drug safety evaluation.
  Journal
Clin Transl Med 11:e530 (2021)
DOI:10.1002/ctm2.530
Reference
PMID:25633834
  Authors
Wemhoner K, Friedrich C, Stallmeyer B, Coffey AJ, Grace A, Zumhagen S, Seebohm G, Ortiz-Bonnin B, Rinne S, Sachse FB, Schulze-Bahr E, Decher N
  Title
Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome.
  Journal
J Mol Cell Cardiol 80:186-95 (2015)
DOI:10.1016/j.yjmcc.2015.01.002
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