Varaico: Literature-Extracted Genetic Variants

Gene:GRIN2A
Variant:p.T646A
Back to variants list

GRIN2A

NM_001134407.3:p.T646A

Associated Papers

Memantine treatment in individuals with GRIN gain-of-function variants is associated with improvements in behavior, development, and seizure frequency.

Karnstedt M et al.

Epilepsia, 2026

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

Loss of Grin2a causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneurons.

Camp CR et al.

Communications Biology, 2023

37723282 (PubMed )
Supplement: 42003_2023_5298_MOESM1_ESM.pdf

Three-dimensional missense tolerance ratio analysis.

Perszyk RE et al.

Genome Research, 2021

34301626 (PubMed )
Supplement: supp_gr.275528.121_Supplemental_Dataset_2.xlsx › mutant_variant_Data

GRIN2A Variants Associated With Idiopathic Generalized Epilepsies.

Liu XR et al.

Frontiers in Molecular Neuroscience, 2021

34720871 (PubMed )
Supplement: Table_3.docx
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."