Varaico: Literature-Extracted Genetic Variants

Gene:GRID2
Variant:p.R710W
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GRID2

NM_001510.4:p.R710W

Associated Papers

Delta-type glutamate receptors are ligand-gated ion channels.

Wang H et al.

Nature, 2025

Shared burden of ultra-rare genetic variants across a spectrum of motor neuron diseases.

Wu G et al.

Translational Neurodegeneration, 2025

41152957 (PubMed )
Supplement: 40035_2025_516_MOESM3_ESM.xlsx › TableS2b_pathogenic_URVs

De Novo GRID2 Variant as a Cause of Ataxia with Oculomotor Apraxia and Alpha-Fetoprotein Elevation.

Sartorelli J et al.

Cerebellum (london, England), 2024

Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.

Allen JP et al.

Human Molecular Genetics, 2024

Neurodevelopmental Syndrome with Intellectual Disability, Speech Impairment, and Quadrupedia Is Associated with Glutamate Receptor Delta 2 Gene Defect.

Grigorenko AP et al.

Cells, 2022

Autosomal recessive spinocerebellar ataxia 18 caused by homozygous exon 14 duplication in GRID2 and review of the literature.

Ceylan AC et al.

Acta Neurologica Belgica, 2021

Structural biology and thermodynamics of GluD receptors.

Chin AC et al.

Neuropharmacology, 2021

D-Serine Potently Drives Ligand-Binding Domain Closure in the Ionotropic Glutamate Receptor GluD2.

Chin AC et al.

Structure (london, England : 1993), 2020

Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features.

Ali Z et al.

Bmc Medical Genetics, 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."