Varaico: Literature-Extracted Genetic Variants

Gene:GRIN2B
Variant:p.W607S
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GRIN2B

NM_000834.5:p.W607S

Associated Papers

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

Banke TG et al.

Brain : a Journal of Neurology, 2025

Characterizing Sensory Phenotypes of Subgroups with a Known Genetic Etiology Pertaining to Diagnoses of Autism Spectrum Disorder and Intellectual Disability.

Hudac CM et al.

Journal of Autism and Developmental Disorders, 2024

37031308 (PubMed )
Supplement: 10803_2023_5897_MOESM2_ESM.xlsx › SITable2

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

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."