Varaico: Literature-Extracted Genetic Variants

Gene:ADORA1
Variant:p.G279S
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ADORA1

NM_000674.3:p.G279S

Associated Papers

The ADORA1 mutation linked to early-onset Parkinson's disease alters adenosine A1-A2A receptor heteromer formation and function.

Sarasola LI et al.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2022

Cancer-related somatic mutations alter adenosine A1 receptor pharmacology-A focus on mutations in the loops and C-terminus.

Wang X et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2022

Thermal Unfolding of the Human Serotonin Transporter: Differential Effect by Stabilizing and Destabilizing Mutations and Cholesterol on Thermodynamic and Kinetic Stability.

Ponleitner M et al.

Molecular Pharmacology, 2022

Functional Impact of the G279S Substitution in the Adenosine A1-Receptor (A1R-G279S7.44), a Mutation Associated with Parkinson's Disease.

Nasrollahi-Shirazi S et al.

Molecular Pharmacology, 2020

PTRHD1 and possibly ADORA1 mutations contribute to Parkinsonism with intellectual disability.

Elahi E

Movement Disorders : Official Journal of the Movement Disorder Society, 2018

ADORA1 mutations are not a common cause of Parkinson's disease and dementia with Lewy bodies.

Blauwendraat C et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2017

Mutation in ADORA1 identified as likely cause of early-onset parkinsonism and cognitive dysfunction.

Jaberi E et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2016

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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."