Varaico: Literature-Extracted Genetic Variants

Gene:GRIN2A
Variant:p.R681*
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GRIN2A

NM_001134407.3:p.R681*

Associated Papers

GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy.

Lemke JR et al.

Molecular Psychiatry, 2026

41087560 (PubMed )
Supplement: 41380_2025_3279_MOESM2_ESM.xlsx › final

Clinical and Molecular Genetic Characterization of Landau Kleffner Syndrome: An Observational Cohort and Experimental Study.

Ngoh A et al.

Annals of Neurology, 2025

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

Unravelling the role of PLK1 in tumorigenesis by revealing the mutational landscape of colorectal and lung cancer with PLK1 mutations.

Wang S et al.

Journal of Cellular and Molecular Medicine, 2024

38887977 (PubMed )
Supplement: JCMM-28-e18497-s004.xlsx › Sheet1

Loss of Grin2a causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneurons.

Camp CR et al.

Communications Biology, 2023

37723282 (PubMed )
Supplement: 42003_2023_5298_MOESM1_ESM.pdf

Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Sivapiragasam A et al.

Cancer Medicine, 2021

33314633 (PubMed )
Supplement: CAM4-10-53-s004.xlsx › Sheet1

Clinical Forms and GRIN2A Genotype of Severe End of Epileptic-Aphasia Spectrum Disorder.

Li X et al.

Frontiers in Pediatrics, 2020

GRIN2A-related disorders: genotype and functional consequence predict phenotype.

Strehlow V et al.

Brain : a Journal of Neurology, 2019

30544257 (PubMed )
Supplement: awy304_supp.zip › awy304-suppl_data › brain-2018-01122-File012.xlsx › Tabelle1

Genetic etiologies of the electrical status epilepticus during slow wave sleep: systematic review.

Kessi M et al.

Bmc Genetics, 2018

Genome annotation for clinical genomic diagnostics: strengths and weaknesses.

Steward CA et al.

Genome Medicine, 2017

Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden.

Chalmers ZR et al.

Genome Medicine, 2017

28420421 (PubMed )
Supplement: 13073_2017_424_MOESM7_ESM.xlsx › Sheet1

Ionotropic GABA and Glutamate Receptor Mutations and Human Neurologic Diseases.

Yuan H et al.

Molecular Pharmacology, 2015

New genes for focal epilepsies with speech and language disorders.

Turner SJ et al.

Current Neurology and Neuroscience Reports, 2015

NMDA receptor subunit mutations in neurodevelopmental disorders.

Burnashev N et al.

Current Opinion in Pharmacology, 2015

Clonal architectures and driver mutations in metastatic melanomas.

Ding L et al.

Plos One, 2014

25393105 (PubMed )
Supplement: pone.0111153.s002.zip › File_S2 › Table_S10.xls › Supp_Table_10

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.

Lemke JR et al.

Nature Genetics, 2013

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