Varaico: Literature-Extracted Genetic Variants

Gene:DRD2
Variant:p.M374R
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DRD2

NM_000795.4:p.M374R

Associated Papers

Mice carrying the human dopamine D2 receptor pathogenic mutation p.Met374Arg exhibit hyperactivity and aberrant D2 receptor function.

Rodriguez-Contreras D et al.

Molecular Pharmacology, 2025

Comparison of the function of two novel human dopamine D2 receptor variants identifies a likely mechanism for their pathogenicity.

Rodriguez-Contreras D et al.

Biochemical Pharmacology, 2024

Gait Abnormalities and Aberrant D2 Receptor Expression and Signaling in Mice Carrying the Human Pathogenic Mutation DRD2I212F.

Rodriguez-Contreras D et al.

Molecular Pharmacology, 2023

Childhood-Onset Chorea Caused by a Recurrent De Novo DRD2 Variant.

Mencacci NE et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2021

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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."