Varaico: Literature-Extracted Genetic Variants

Gene:GRIN2B
Variant:p.T691A
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GRIN2B

NM_000834.5:p.T691A

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

Distinct Regulation of Early Trafficking of the NMDA Receptors by the Ligand-Binding Domains of the GluN1 and GluN2A Subunits.

Netolicky J et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 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

Three-dimensional missense tolerance ratio analysis.

Perszyk RE et al.

Genome Research, 2021

34301626 (PubMed )
Supplement: supp_gr.275528.121_Supplemental_Dataset_2.xlsx › mutant_variant_Data

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

Tweaking agonist efficacy at N-methyl-D-aspartate receptors by site-directed mutagenesis.

Hansen KB et al.

Molecular Pharmacology, 2005

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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."