Varaico: Literature-Extracted Genetic Variants

Gene:GRIN2A
Variant:p.A643D
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GRIN2A

NM_001134407.3:p.A643D

Associated Papers

Clinical phenotype and functional influence of GRIN2A variants in epilepsy-aphasia syndrome.

Zhang L et al.

Epilepsia Open, 2024

39474911 (PubMed )
Supplement: EPI4-9-2306-s002.xlsx › Sheet1

Disease-Associated Variants in GRIN1, GRIN2A and GRIN2B genes: Insights into NMDA Receptor Structure, Function, and Pathophysiology.

Korinek M et al.

Physiological Research, 2024

De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor.

Xu Y et al.

Cellular and Molecular Life Sciences : Cmls, 2024

Positive allosteric modulators that target NMDA receptors rectify loss-of-function GRIN variants associated with neurological and neuropsychiatric disorders.

Tang W et al.

Neuropharmacology, 2020

An Epilepsy-Associated GRIN2A Rare Variant Disrupts CaMKIIα Phosphorylation of GluN2A and NMDA Receptor Trafficking.

Mota Vieira M et al.

Cell Reports, 2020

32877683 (PubMed )
Supplement: NIHMS1627855-supplement-2.xlsx › GRIN2A_variants

A novel missense mutation in GRIN2A causes a nonepileptic neurodevelopmental disorder.

Fernández-Marmiesse A et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2018

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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."