Varaico: Literature-Extracted Genetic Variants

Gene:GRIN2B
Variant:p.R696C
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GRIN2B

NM_000834.5:p.R696C

Associated Papers

A GluN2B disease-associated variant promotes the degradation of NMDA receptors via autophagy.

Benske TM et al.

The Journal of Biological Chemistry, 2026

41525846 (PubMed )
Supplement: mmc1.xlsx › Supp_Table_S1

Inhibition of GluN2B-containing N-methyl-d-aspartate receptors by radiprodil.

Banke TG et al.

Brain : a Journal of Neurology, 2025

Integrating epidemiology and genomics data to estimate the prevalence of acquired cysteine drug targets in the U.S. cancer patient population.

Arun AS et al.

The Pharmacogenomics Journal, 2025

40044654 (PubMed )
Supplement: 41397_2025_364_MOESM3_ESM.xlsx › Sheet1

Ligand distances as key predictors of pathogenicity and function in NMDA receptors.

Montanucci L et al.

Human Molecular Genetics, 2025

39535073 (PubMed )
Supplement: supplemental_table_s6_final_ddae156.xlsx › Supporting_parameter_for_a_CALL

Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.

Jain R et al.

Genetics in Medicine Open, 2025

40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1

Optical Genome Mapping Identifies Novel Recurrent Structural Alterations in Childhood ETV6::RUNX1+ and High Hyperdiploid Acute Lymphoblastic Leukemia.

Brandes D et al.

Hemasphere, 2023

37469802 (PubMed )
Supplement: hs9-7-e925-s001.xlsx › Table_S5_
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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."