Varaico: Literature-Extracted Genetic Variants

Gene:GRIN2B
Variant:p.K669N
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GRIN2B

NM_000834.5:p.K669N

Associated Papers

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

Korinek M et al.

Physiological Research, 2024

Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-function.

Myers SJ et al.

Human Molecular Genetics, 2023

From bedside-to-bench: What disease-associated variants are teaching us about the NMDA receptor.

Amin JB et al.

The Journal of Physiology, 2021

Mutations of N-Methyl-D-Aspartate Receptor Subunits in Epilepsy.

Xu XX et al.

Neuroscience Bulletin, 2018

Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains.

Swanger SA et al.

American Journal of Human Genetics, 2016

NMDA receptor subunit mutations in neurodevelopmental disorders.

Burnashev N et al.

Current Opinion in Pharmacology, 2015

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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."