Varaico: Literature-Extracted Genetic Variants

Gene:GRIN2A
Variant:p.T426A
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GRIN2A

NM_001134407.3:p.T426A

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

Real-world performance analysis of a novel computational method in the precision oncology of pediatric tumors.

Vodicska B et al.

World Journal of Pediatrics : Wjp, 2023

36914906 (PubMed )
Supplement: 12519_2023_700_MOESM1_ESM.xlsx › Driver_list

Regulation of the NMDA receptor by its cytoplasmic domains: (How) is the tail wagging the dog?

Ishchenko Y et al.

Neuropharmacology, 2021

GRIN2A Variants Associated With Idiopathic Generalized Epilepsies.

Liu XR et al.

Frontiers in Molecular Neuroscience, 2021

34720871 (PubMed )
Supplement: Table_3.docx

Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.

Ross JS et al.

Cancer, 2018

29338072 (PubMed )
Supplement: CNCR-124-1358-s002.xlsx › Colon

Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease.

Lubbe SJ et al.

Neurobiology of Aging, 2016

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix

De novo KCNB1 mutations in epileptic encephalopathy.

Torkamani A et al.

Annals of Neurology, 2014

Somatic mutation of GRIN2A in malignant melanoma results in loss of tumor suppressor activity via aberrant NMDAR complex formation.

Prickett TD et al.

The Journal of Investigative Dermatology, 2014

24739903 (PubMed )
Supplement: NIHMS585518-supplement-supplement_1.pdf
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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."