Varaico: Literature-Extracted Genetic Variants

Gene:GRIN2B
Variant:p.S541G
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GRIN2B

NM_000834.5:p.S541G

Associated Papers

A GluN2B disease-associated variant promotes the degradation of NMDA receptors via autophagy.

Benske TM et al.

The Journal of Biological Chemistry, 2026

41525846 (PubMed )
Supplement: mmc1.xlsx › Supp_Table_S1

Memantine treatment in individuals with GRIN gain-of-function variants is associated with improvements in behavior, development, and seizure frequency.

Karnstedt M et al.

Epilepsia, 2026

Inhibition of GluN2B-containing N-methyl-d-aspartate receptors by radiprodil.

Banke TG et al.

Brain : a Journal of Neurology, 2025

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

Functional effects of disease-associated variants reveal that the S1-M1 linker of the NMDA receptor critically controls channel opening.

Xie L et al.

Cellular and Molecular Life Sciences : Cmls, 2023

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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."