KEGG   VARIANT: 815v2
Entry
815v2                      Variant                                 
Name
CAMK2A activating mutation
Type
Gain of function
Gene
CAMK2A  calcium/calmodulin dependent protein kinase II alpha [KO:K04515]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 114078
Network
nt06528  Calcium signaling
nt06541  Cytoskeleton in neurons
Disease
H00773  Autosomal dominant intellectual developmental disorder
Reference
  Authors
Akita T, Aoto K, Kato M, Shiina M, Mutoh H, Nakashima M, Kuki I, Okazaki S, Magara S, Shiihara T, Yokochi K, Aiba K, Tohyama J, Ohba C, Miyatake S, Miyake N, Ogata K, Fukuda A, Matsumoto N, Saitsu H
  Title
De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders.
  Journal
Ann Clin Transl Neurol 5:280-296 (2018)
DOI:10.1002/acn3.528
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