Varaico: Literature-Extracted Genetic Variants

Gene:GRIN2A
Variant:p.S547del1
Back to variants list

GRIN2A

NM_001134407.3:p.S547del1

Associated Papers

Disease-Associated Variants in GRIN1, GRIN2A and GRIN2B genes: Insights into NMDA Receptor Structure, Function, and Pathophysiology.

Korinek M et al.

Physiological Research, 2024

Functional effects of disease-associated variants reveal that the S1-M1 linker of the NMDA receptor critically controls channel opening.

Xie L et al.

Cellular and Molecular Life Sciences : Cmls, 2023

Genetic etiologies of the electrical status epilepticus during slow wave sleep: systematic review.

Kessi M et al.

Bmc Genetics, 2018

Mutations of N-Methyl-D-Aspartate Receptor Subunits in Epilepsy.

Xu XX et al.

Neuroscience Bulletin, 2018

Ionotropic GABA and Glutamate Receptor Mutations and Human Neurologic Diseases.

Yuan H et al.

Molecular Pharmacology, 2015

New genes for focal epilepsies with speech and language disorders.

Turner SJ et al.

Current Neurology and Neuroscience Reports, 2015

NMDA receptor subunit mutations in neurodevelopmental disorders.

Burnashev N et al.

Current Opinion in Pharmacology, 2015

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.

Lemke JR et al.

Nature Genetics, 2013

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."