Varaico: Literature-Extracted Genetic Variants

Gene:GRIN2B
Variant:p.G499V
Back to variants list

GRIN2B

NM_000834.5:p.G499V

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

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_s8_final_ddae156.xlsx › Suppl_Table_S8

Novel Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotypes.

Mastrangelo M

Pediatric Neurology, 2015

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."