Varaico: Literature-Extracted Genetic Variants

Gene:GRIA2
Variant:p.Q607R
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GRIA2

NM_001083619.3:p.Q607R

Associated Papers

TSniffer: unbiased de novo identification of RNA editing sites and quantification of editing activity in RNA-seq data.

Herrmann M et al.

Genome Biology, 2026

RNA Editing by ADAR Adenosine Deaminases in the Cell Models of CAG Repeat Expansion Diseases: Significant Effect of Differentiation from Stem Cells into Brain Organoids in the Absence of Substantial Influence of CAG Repeats on the Level of Editing.

Kudriavskii VV et al.

Biochemistry. Biokhimiia, 2024

Spatiotemporal and genetic regulation of A-to-I editing throughout human brain development.

Dredge WH et al.

Cell Reports, 2022

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

The Potential Role of AMPA Receptor Trafficking in Autism and Other Neurodevelopmental Conditions.

Niescier RF et al.

Neuroscience, 2021

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

Adenosine-to-inosine RNA editing in the immune system: friend or foe?

Nakahama T et al.

Cellular and Molecular Life Sciences : Cmls, 2020

Global analysis of A-to-I RNA editing reveals association with common disease variants.

Franzén O et al.

Peerj, 2018

Somatic Accumulation of GluA1-AMPA Receptors Leads to Selective Cognitive Impairments in Mice.

Bannerman DM et al.

Frontiers in Molecular Neuroscience, 2018

Aggregation Limits Surface Expression of Homomeric GluA3 Receptors.

Coleman SK et al.

The Journal of Biological Chemistry, 2016

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A06P-01A.domain

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

Solomon O et al.

Proteins, 2014

Mammalian conserved ADAR targets comprise only a small fragment of the human editosome.

Pinto Y et al.

Genome Biology, 2014

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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."