KEGG   VARIANT: 776v2
Entry
776v2                      Variant                                 
Name
CACNA1D mutation
Type
Loss of function
Gene
CACNA1D  calcium voltage-gated channel subunit alpha1 D [KO:K04851]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 114206
Network
nt06528  Calcium signaling
Disease
H02636  Sinoatrial node dysfunction and deafness
Reference
  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
  Authors
Baig SM, Koschak A, Lieb A, Gebhart M, Dafinger C, Nurnberg G, Ali A, Ahmad I, Sinnegger-Brauns MJ, Brandt N, Engel J, Mangoni ME, Farooq M, Khan HU, Nurnberg P, Striessnig J, Bolz HJ
  Title
Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness.
  Journal
Nat Neurosci 14:77-84 (2011)
DOI:10.1038/nn.2694
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