Varaico: Literature-Extracted Genetic Variants

Gene:GRIN2A
Variant:p.N648S
Back to variants list

GRIN2A

NM_001134407.3:p.N648S

Associated Papers

GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy.

Lemke JR et al.

Molecular Psychiatry, 2026

41087560 (PubMed )
Supplement: 41380_2025_3279_MOESM2_ESM.xlsx › final

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

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

Rare coding variants in ten genes confer substantial risk for schizophrenia.

Singh T et al.

Nature, 2022

GRIN2A Variants Associated With Idiopathic Generalized Epilepsies.

Liu XR et al.

Frontiers in Molecular Neuroscience, 2021

34720871 (PubMed )
Supplement: Table_3.docx

GRIN2A-related disorders: genotype and functional consequence predict phenotype.

Strehlow V et al.

Brain : a Journal of Neurology, 2019

30544257 (PubMed )
Supplement: awy304_supp.zip › awy304-suppl_data › brain-2018-01122-File012.xlsx › Tabelle1

Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.

Traynelis J et al.

Genome Research, 2017

28864458 (PubMed )
Supplement: supp_gr.226589.117_Supplemental_Data_S1.xlsx › Data_S1

Molecular determinants of proton-sensitive N-methyl-D-aspartate receptor gating.

Low CM et al.

Molecular Pharmacology, 2003

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."