KEGG   VARIANT: 207v1
Entry
207v1                      Variant                                 
Name
AKT1 mutation
Type
Gain of function
Gene
AKT1  RAC-alpha serine/threonine-protein kinase [KO:K04456]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 164730
Network
nt06530  PI3K signaling
Disease
H01222  Cowden syndrome
H02119  Proteus syndrome
Reference
PMID:23246288
  Authors
Orloff MS, He X, Peterson C, Chen F, Chen JL, Mester JL, Eng C
  Title
Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes.
  Journal
Am J Hum Genet 92:76-80 (2013)
DOI:10.1016/j.ajhg.2012.10.021
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
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