Varaico: Literature-Extracted Genetic Variants

Gene:GNAO1
Variant:p.G204R
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GNAO1

NM_020988.3:p.G204R

Associated Papers

Dominant Gα mutations in human disease: unifying mechanisms and treatment strategies.

Katanaev VL et al.

Embo Molecular Medicine, 2025

Mutated G proteins as drug targets.

Noorman van der Dussen K et al.

Trends in Pharmacological Sciences, 2025

Molecular annotation of G protein variants in a neurological disorder.

Knight KM et al.

Cell Reports, 2023

Genotype-phenotype correlation and treatment effects in young patients with GNAO1-associated disorders.

Thiel M et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2023

GNAO1-related neurodevelopmental disorder: Literature review and caregiver survey.

JoJo Yang QZ et al.

Epilepsy & Behavior Reports, 2023

36654732 (PubMed )
Supplement: mmc1.xlsx › Draft

Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia.

Di Rocco M et al.

Human Molecular Genetics, 2022

Gαo is a major determinant of cAMP signaling in the pathophysiology of movement disorders.

Muntean BS et al.

Cell Reports, 2021

Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia.

Koy A et al.

Journal of the Neurological Sciences, 2018

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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."