KEGG   VARIANT: 208v1
Entry
208v1                      Variant                                 
Name
AKT2 mutation
Type
Gain of function
Gene
AKT2  AKT serine/threonine kinase 2 [KO:K04456]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 164731
Network
nt06530  PI3K signaling
Disease
H01909  Hypoinsulinemic hypoglycemia with hemihypertrophy
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
Reference
PMID:21979934
  Authors
Hussain K, Challis B, Rocha N, Payne F, Minic M, Thompson A, Daly A, Scott C, Harris J, Smillie BJ, Savage DB, Ramaswami U, De Lonlay P, O'Rahilly S, Barroso I, Semple RK
  Title
An activating mutation of AKT2 and human hypoglycemia.
  Journal
Science 334:474 (2011)
DOI:10.1126/science.1210878
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