KEGG   VARIANT: 2892v1
Entry
2892v1                      Variant                                
Name
GRIA3 mutation
Type
Loss of function
Gene
GRIA3  glutamate ionotropic receptor AMPA type subunit 3 [KO:K05199]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 305915
Network
nt06544  Neuroactive ligand signaling
Disease
H00658  X-linked syndromic intellectual developmental disorder
Reference
  Authors
Wu Y, Arai AC, Rumbaugh G, Srivastava AK, Turner G, Hayashi T, Suzuki E, Jiang Y, Zhang L, Rodriguez J, Boyle J, Tarpey P, Raymond FL, Nevelsteen J, Froyen G, Stratton M, Futreal A, Gecz J, Stevenson R, Schwartz CE, Valle D, Huganir RL, Wang T
  Title
Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans.
  Journal
Proc Natl Acad Sci U S A 104:18163-8 (2007)
DOI:10.1073/pnas.0708699104
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