Varaico: Literature-Extracted Genetic Variants

Gene:GRIN2A
Variant:p.E551K
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GRIN2A

NM_001134407.3:p.E551K

Associated Papers

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

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

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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."