Varaico: Literature-Extracted Genetic Variants

Gene:GRIN1
Variant:p.V820A
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GRIN1

NM_007327.4:p.V820A

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

Analysis of M4 Transmembrane Segments in NMDA Receptor Function: A Negative Allosteric Modulatory Site at the GluN1 M4 is Determining the Efficiency of Neurosteroid Modulation.

Langer K et al.

Frontiers in Pharmacology, 2021

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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."