KEGG   VARIANT: 2890v2
Entry
2890v2                      Variant                                
Name
GRIA1 mutation
Type
Loss 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
H00768  Autosomal recessive intellectual developmental disorder
Reference
PMID:35675825
  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
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