KEGG   VARIANT: 5295v2
Entry
5295v2                      Variant                                
Name
PIK3R1 gain-of-function mutation
Type
Gain of function
Gene
PIK3R1  phosphoinositide-3-kinase regulatory subunit 1 [KO:K02649]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 171833
Network
nt06537  TCR/BCR signaling
Disease
H01387  Activated PI3K-delta syndrome
Reference
PMID:25133428
  Authors
Deau MC, Heurtier L, Frange P, Suarez F, Bole-Feysot C, Nitschke P, Cavazzana M, Picard C, Durandy A, Fischer A, Kracker S
  Title
A human immunodeficiency caused by mutations in the PIK3R1 gene.
  Journal
J Clin Invest 124:3923-8 (2014)
DOI:10.1172/JCI75746
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