KEGG   VARIANT: 5296v1
Entry
5296v1                      Variant                                
Name
PIK3R2 mutation
Type
Gain of function
Gene
PIK3R2  phosphoinositide-3-kinase regulatory subunit 2 [KO:K02649]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603157
Network
nt06530  PI3K signaling
Disease
H01885  Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
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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