Varaico: Literature-Extracted Genetic Variants

Gene:GRIN2A
Variant:p.N447K
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GRIN2A

NM_001134407.3:p.N447K

Associated Papers

Application of clinical exome sequencing in sperm donor screening in China.

Huang J et al.

Journal of Assisted Reproduction and Genetics, 2025

Clinical phenotype and functional influence of GRIN2A variants in epilepsy-aphasia syndrome.

Zhang L et al.

Epilepsia Open, 2024

39474911 (PubMed )
Supplement: EPI4-9-2306-s002.xlsx › Sheet1

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

Korinek M et al.

Physiological Research, 2024

GRIN2A-related epilepsy and speech disorders: A comprehensive overview with a focus on the role of precision therapeutics.

Samanta D

Epilepsy Research, 2023

GRIN2A Variants Associated With Idiopathic Generalized Epilepsies.

Liu XR et al.

Frontiers in Molecular Neuroscience, 2021

An Epilepsy-Associated GRIN2A Rare Variant Disrupts CaMKIIα Phosphorylation of GluN2A and NMDA Receptor Trafficking.

Mota Vieira M et al.

Cell Reports, 2020

32877683 (PubMed )
Supplement: NIHMS1627855-supplement-2.xlsx › GRIN2A_variants

Clinical Utility of Exome Sequencing and Reinterpreting Genetic Test Results in Children and Adults With Epilepsy.

Jiang YL et al.

Frontiers in Genetics, 2020

Distinct roles of GRIN2A and GRIN2B variants in neurological conditions.

Myers SJ et al.

F1000research, 2019

Functional Investigation of a GRIN2A Variant Associated with Rolandic Epilepsy.

Xu XX et al.

Neuroscience Bulletin, 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."