Varaico: Literature-Extracted Genetic Variants

Gene:GRIN1
Variant:p.G815A
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GRIN1

NM_007327.4:p.G815A

Associated Papers

Two gates mediate NMDA receptor activity and are under subunit-specific regulation.

Amin JB et al.

Nature Communications, 2023

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

Site of Action of Brain Neurosteroid Pregnenolone Sulfate at the N-Methyl-D-Aspartate Receptor.

Hrcka Krausova B et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2020

A conserved glycine harboring disease-associated mutations permits NMDA receptor slow deactivation and high Ca2+ permeability.

Amin JB et al.

Nature Communications, 2018

GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders.

Ohba C et al.

Epilepsia, 2015

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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."