Varaico: Literature-Extracted Genetic Variants

Gene:GRIN2B
Variant:p.N616S
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GRIN2B

NM_000834.5:p.N616S

Associated Papers

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

Banke TG et al.

Brain : a Journal of Neurology, 2025

Ligand distances as key predictors of pathogenicity and function in NMDA receptors.

Montanucci L et al.

Human Molecular Genetics, 2025

39535073 (PubMed )
Supplement: supplemental_table_s6_final_ddae156.xlsx › Supporting_parameter_for_a_CALL

N-methyl-d-aspartate (NMDA) receptor genetics: The power of paralog homology and protein dynamics in defining dominant genetic variants.

Charron JG et al.

American Journal of Medical Genetics. Part A, 2022

Two de novo GluN2B mutations affect multiple NMDAR-functions and instigate severe pediatric encephalopathy.

Kellner S et al.

Elife, 2021

34212862 (PubMed )
Supplement: elife-67555-supp2.xlsx › ClinVar_-_filtered
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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."