Varaico: Literature-Extracted Genetic Variants

Gene:GRIN2A
Variant:p.E413G
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GRIN2A

NM_001134407.3:p.E413G

Associated Papers

Rescuing tri-heteromeric NMDA receptor function: the potential of pregnenolone-sulfate in loss-of-function GRIN2B variants.

Kellner S et al.

Cellular and Molecular Life Sciences : Cmls, 2024

Molecular Insights into the Role of Pathogenic nsSNPs in GRIN2B Gene Provoking Neurodevelopmental Disorders.

Shah AA et al.

Genes, 2022

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

Human GRIN2B variants in neurodevelopmental disorders.

Hu C et al.

Journal of Pharmacological Sciences, 2016

Ionotropic GABA and Glutamate Receptor Mutations and Human Neurologic Diseases.

Yuan H et al.

Molecular 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."