Varaico: Literature-Extracted Genetic Variants

Gene:GRIK2
Variant:p.Q621R
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GRIK2

NM_021956.5:p.Q621R

Associated Papers

RNA editing regulates glutamatergic synapses in the frontal cortex of a molecular subtype of Amyotrophic Lateral Sclerosis.

Karagianni K et al.

Molecular Medicine (cambridge, Mass.), 2024

Cellular and genetic drivers of RNA editing variation in the human brain.

Cuddleston WH et al.

Nature Communications, 2022

35637184 (PubMed )
Supplement: 41467_2022_30531_MOESM8_ESM.xlsx › Recoding_matrix

Splicing and editing of ionotropic glutamate receptors: a comprehensive analysis based on human RNA-Seq data.

Herbrechter R et al.

Cellular and Molecular Life Sciences : Cmls, 2021

Genetic Dissection of Hypertrophic Cardiomyopathy with Myocardial RNA-Seq.

Gao J et al.

International Journal of Molecular Sciences, 2020

32344918 (PubMed )
Supplement: ijms-21-03040-s001.zip › Supplementary_Data › Supplementary_Data_2.xlsx › S_Data_2

Widespread RNA editing dysregulation in brains from autistic individuals.

Tran SS et al.

Nature Neuroscience, 2019

30559470 (PubMed )
Supplement: NIHMS1512053-supplement-Sup_Table_5.xlsx › 5b

Characterizing of functional human coding RNA editing from evolutionary, structural, and dynamic perspectives.

Solomon O et al.

Proteins, 2014

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File006.xls › TypeII_

Linkage and association of the glutamate receptor 6 gene with autism.

Jamain S et al.

Molecular Psychiatry, 2002

Functional assembly of AMPA and kainate receptors is mediated by several discrete protein-protein interactions.

Ayalon G et al.

Neuron, 2001

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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."