Varaico: Literature-Extracted Genetic Variants

Gene:GRID2
Variant:p.R224Q
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GRID2

NM_001510.4:p.R224Q

Associated Papers

Delta-type glutamate receptors are ligand-gated ion channels.

Wang H et al.

Nature, 2025

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.

Zech M et al.

Brain : a Journal of Neurology, 2025

39937650 (PubMed )
Supplement: awaf059_supplementary_data.zip › brain-2024-02450-File011.pdf

NMPhenogen: a comprehensive database for genotype-phenotype correlation in neuromuscular genetic disorders.

Manjunath U et al.

Frontiers in Neuroscience, 2025

41262473 (PubMed )
Supplement: Table_1.XLSX › Sheet2

Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.

Allen JP et al.

Human Molecular Genetics, 2024

37944084 (PubMed )
Supplement: grid_variants_supplemental_revised_10-26-2023_final_rev_ddad188.pdf
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