Varaico: Literature-Extracted Genetic Variants

Gene:GRIN1
Variant:p.S646A
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GRIN1

NM_007327.4:p.S646A

Associated Papers

Pregnane-based steroids are novel positive NMDA receptor modulators that may compensate for the effect of loss-of-function disease-associated GRIN mutations.

Kysilov B et al.

British Journal of Pharmacology, 2022

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

Block of NMDA receptor channels by endogenous neurosteroids: implications for the agonist induced conformational states of the channel vestibule.

Vyklicky V et al.

Scientific Reports, 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."