Varaico: Literature-Extracted Genetic Variants

Gene:GRIN2A
Variant:p.T690A
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GRIN2A

NM_001134407.3:p.T690A

Associated Papers

Distinct Regulation of Early Trafficking of the NMDA Receptors by the Ligand-Binding Domains of the GluN1 and GluN2A Subunits.

Netolicky J et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2025

Rescuing tri-heteromeric NMDA receptor function: the potential of pregnenolone-sulfate in loss-of-function GRIN2B variants.

Kellner S et al.

Cellular and Molecular Life Sciences : Cmls, 2024

ConVarT: a search engine for matching human genetic variants with variants from non-human species.

Pir MS et al.

Nucleic Acids Research, 2022

34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S8.xls › human_ben_mouse_unk_orthovar_14

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
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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."