Varaico: Literature-Extracted Genetic Variants

Gene:GRIN1
Variant:p.Y647C
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GRIN1

NM_007327.4:p.Y647C

Associated Papers

Context-dependent NMDA receptor dysfunction predicts seizure treatment in mice with human GluN1 variant.

Venkatesan S et al.

Iscience, 2026

Grin1 Y 647 S/+ Mice: A Preclinical Model of GRIN1 -Related Neurodevelopmental Disorder.

Sullivan MT et al.

Biorxiv : the Preprint Server for Biology, 2024

De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor.

Xu Y et al.

Cellular and Molecular Life Sciences : Cmls, 2024

Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B.

Brock S et al.

Journal of Medical Genetics, 2023

Hodgkin-Huxley-Katz Prize Lecture: Genetic and pharmacological control of glutamate receptor channel through a highly conserved gating motif.

Perszyk RE et al.

The Journal of Physiology, 2020

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.

Fry AE et al.

Brain : a Journal of Neurology, 2018

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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."