KEGG   VARIANT: 818v1
Entry
818v1                      Variant                                 
Name
CAMK2G mutation
Type
Gain of function
Gene
CAMK2G  calcium/calmodulin dependent protein kinase II gamma [KO:K04515]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602123
Network
nt06528  Calcium signaling
Disease
H00773  Autosomal dominant intellectual developmental disorder
Reference
  Authors
Proietti Onori M, Koopal B, Everman DB, Worthington JD, Jones JR, Ploeg MA, Mientjes E, van Bon BW, Kleefstra T, Schulman H, Kushner SA, Kury S, Elgersma Y, van Woerden GM
  Title
The intellectual disability-associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain-of-function.
  Journal
Hum Mutat 39:2008-2024 (2018)
DOI:10.1002/humu.23647
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