Varaico: Literature-Extracted Genetic Variants

Gene:GRIN2A
Variant:p.C456Y
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GRIN2A

NM_001134407.3:p.C456Y

Associated Papers

Aberrant mRNA splicing and impaired hippocampal neurogenesis in Grin2b mutant mice.

Farsi Z et al.

Iscience, 2026

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

Korinek M et al.

Physiological Research, 2024

Synaptic Dysfunction by Mutations in GRIN2B: Influence of Triheteromeric NMDA Receptors on Gain-of-Function and Loss-of-Function Mutant Classification.

Elmasri M et al.

Brain Sciences, 2022

35741674 (PubMed )
Supplement: brainsci-12-00789-s001.zip › brainsci-1750947-supplementary.pdf

Tumor-derived DNA from pleural effusion supernatant as a promising alternative to tumor tissue in genomic profiling of advanced lung cancer.

Tong L et al.

Theranostics, 2019

31534501 (PubMed )
Supplement: thnov09p5532s1.pdf

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

GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy.

Lemke JR et al.

Annals of Neurology, 2014

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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."