Varaico: Literature-Extracted Genetic Variants

Gene:GRID2
Variant:p.A654T
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GRID2

NM_001510.4:p.A654T

Associated Papers

Glutamate Delta 1 Receptor in Synapses, Circuits, and Disease.

Choi D et al.

The European Journal of Neuroscience, 2026

Rescuing Neurodevelopmental Deficits in AMPA Receptor Gain-of-Function Mutant.

Chen CM et al.

Biorxiv : the Preprint Server for Biology, 2025

GluD1 at the synaptic crossroads: from domain structure to circuit dysfunction.

Chettiar PB et al.

Acta Pharmacologica Sinica, 2025

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

Wang H et al.

Nature, 2025

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

Sartorelli J et al.

Cerebellum (london, England), 2024

Loss of activation by GABA in vertebrate delta ionotropic glutamate receptors.

Rosano G et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

A heterozygous GRID2 mutation in autosomal dominant cerebellar ataxia.

Koh K et al.

Human Genome Variation, 2022

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

Grigorenko AP et al.

Cells, 2022

Delta glutamate receptors are functional glycine- and ᴅ-serine-gated cation channels in situ.

Carrillo E et al.

Science Advances, 2021

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

An emerging map of glutamate delta 1 receptors in the forebrain.

Andrews PC et al.

Neuropharmacology, 2021

Probing the ionotropic activity of glutamate GluD2 receptor in HEK cells with genetically-engineered photopharmacology.

Lemoine D et al.

Elife, 2020

The low binding affinity of D-serine at the ionotropic glutamate receptor GluD2 can be attributed to the hinge region.

Tapken D et al.

Scientific Reports, 2017

Structural basis for integration of GluD receptors within synaptic organizer complexes.

Elegheert J et al.

Science (new York, N.y.), 2016

GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia.

Coutelier M et al.

Neurology, 2015

The human δ2 glutamate receptor gene is not mutated in patients with spinocerebellar ataxia.

Huang J et al.

Neural Regeneration Research, 2014

Glutamate receptor ion channels: structure, regulation, and function.

Traynelis SF et al.

Pharmacological Reviews, 2010

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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."