KEGG   VARIANT: 2890v1
Entry
2890v1                      Variant                                
Name
GRIA1 gain-of-function mutation
Type
Gain of function
Gene
GRIA1  glutamate ionotropic receptor AMPA type subunit 1 [KO:K05197]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 138248
Network
nt06541  Cytoskeleton in neurons
nt06544  Neuroactive ligand signaling
Disease
H00773  Autosomal dominant intellectual developmental disorder
Reference
  Authors
Ismail V, Zachariassen LG, Godwin A, Sahakian M, Ellard S, Stals KL, Baple E, Brown KT, Foulds N, Wheway G, Parker MO, Lyngby SM, Pedersen MG, Desir J, Bayat A, Musgaard M, Guille M, Kristensen AS, Baralle D
  Title
Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome.
  Journal
Am J Hum Genet 109:1217-1241 (2022)
DOI:10.1016/j.ajhg.2022.05.009
Reference
  Authors
Geisheker MR, Heymann G, Wang T, Coe BP, Turner TN, Stessman HAF, Hoekzema K, Kvarnung M, Shaw M, Friend K, Liebelt J, Barnett C, Thompson EM, Haan E, Guo H, Anderlid BM, Nordgren A, Lindstrand A, Vandeweyer G, Alberti A, Avola E, Vinci M, Giusto S, Pramparo T, Pierce K, Nalabolu S, Michaelson JJ, Sedlacek Z, Santen GWE, Peeters H, Hakonarson H, Courchesne E, Romano C, Kooy RF, Bernier RA, Nordenskjold M, Gecz J, Xia K, Zweifel LS, Eichler EE
  Title
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.
  Journal
Nat Neurosci 20:1043-1051 (2017)
DOI:10.1038/nn.4589
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