Varaico: Literature-Extracted Genetic Variants

Gene:GABRQ
Variant:p.I478F
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GABRQ

NM_018558.4:p.I478F

Associated Papers

Whole exome sequencing reveals an FCGBP variant associated with spontaneous intraabdominal hemorrhage in severe acute pancreatitis.

Tang QY et al.

Imetaomics, 2025

41675706 (PubMed )
Supplement: IMO2-2-e52-s002.xlsx › 2D

Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.

Villa M et al.

British Journal of Cancer, 2024

39478125 (PubMed )
Supplement: 41416_2024_2881_MOESM1_ESM.pdf

A pioneering study indicate role of GABRQ rs3810651 in ASD severity of Indo-Caucasoid female probands.

Saha S et al.

Scientific Reports, 2021

Integrated genomic analysis reveals mutated ELF3 as a potential gallbladder cancer vaccine candidate.

Pandey A et al.

Nature Communications, 2020

32839463 (PubMed )
Supplement: 41467_2020_17880_MOESM7_ESM.xlsx › Cholecystitis_Mutations

Genetic Risk Factors for Essential Tremor: A Review.

Siokas V et al.

Tremor and Other Hyperkinetic Movements (new York, N.y.), 2020

32775018 (PubMed )
Supplement: tohm-10-1-67-s2.pdf

Analysis of the Deleterious Single-Nucleotide Polymorphisms Associated With Antidepressant Efficacy in Major Depressive Disorder.

Xin J et al.

Frontiers in Psychiatry, 2020

CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA.

Moreno-Mayordomo R et al.

The Journal of Headache and Pain, 2019

Gamma-aminobutyric acid (GABA) receptors genes polymorphisms and risk for restless legs syndrome.

Jiménez-Jiménez FJ et al.

The Pharmacogenomics Journal, 2018

Gamma-aminobutyric acid (GABA) receptors GABRA4, GABRE, and GABRQ gene polymorphisms and risk for migraine.

García-Martín E et al.

Journal of Neural Transmission (vienna, Austria : 1996), 2018

Missense Gamma-Aminobutyric Acid Receptor Polymorphisms Are Associated with Reaction Time, Motor Time, and Ethanol Effects in Vivo.

García-Martín E et al.

Frontiers in Cellular Neuroscience, 2018

Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.

Piton A et al.

Molecular Psychiatry, 2011

Gamma-aminobutyric acid GABRA4, GABRE, and GABRQ receptor polymorphisms and risk for essential tremor.

García-Martín E et al.

Pharmacogenetics and Genomics, 2011

Investigation of gamma-aminobutyric acid (GABA) A receptors genes and migraine susceptibility.

Fernandez F et al.

Bmc Medical Genetics, 2008

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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."