Varaico: Literature-Extracted Genetic Variants

Gene:GRIN1
Variant:p.G815V
Back to variants list

GRIN1

NM_007327.4:p.G815V

Associated Papers

Ligand distances as key predictors of pathogenicity and function in NMDA receptors.

Montanucci L et al.

Human Molecular Genetics, 2025

39535073 (PubMed )
Supplement: supplemental_table_s8_final_ddae156.xlsx › Suppl_Table_S8

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

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

Lemke JR et al.

Neurology, 2016

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."