KEGG   VARIANT: 10000v1
Entry
10000v1                      Variant                               
Name
AKT3 mutation
Gene
AKT3  AKT serine/threonine kinase 3 [KO:K04456]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 611223
Network
nt06530  PI3K signaling
Disease
H01885  Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
Reference
PMID:27860216
  Authors
Keppler-Noreuil KM, Parker VE, Darling TN, Martinez-Agosto JA
  Title
Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies.
  Journal
Am J Med Genet C Semin Med Genet 172:402-421 (2016)
DOI:10.1002/ajmg.c.31531
Reference
PMID:30197175
  Authors
Madsen RR, Vanhaesebroeck B, Semple RK
  Title
Cancer-Associated PIK3CA Mutations in Overgrowth Disorders.
  Journal
Trends Mol Med 24:856-870 (2018)
DOI:10.1016/j.molmed.2018.08.003
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