Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A3
Variant:p.D345N
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SLC6A3

NM_001044.5:p.D345N

Associated Papers

ANKK1, ANKRD50, GRK5, PACSIN1 and VPS8 are novel candidate genes associated with late onset Parkinson's disease: Definition of a novel predictive protocol based on polygenic model of inheritance.

Carrillo F et al.

Neurobiology of Disease, 2025

Dopamine Transporter Amino and Carboxyl Termini Synergistically Contribute to Substrate and Inhibitor Affinities.

Sweeney CG et al.

The Journal of Biological Chemistry, 2017

An N-terminal threonine mutation produces an efflux-favorable, sodium-primed conformation of the human dopamine transporter.

Fraser R et al.

Molecular Pharmacology, 2014

Aspartate 345 of the dopamine transporter is critical for conformational changes in substrate translocation and cocaine binding.

Chen N et al.

The Journal of Biological Chemistry, 2004

Role of proline residues in the expression and function of the human noradrenaline transporter.

Paczkowski FA et al.

Journal of Neurochemistry, 2004

The role of the conserved GXXXRXG motif in the expression and function of the human norepinephrine transporter.

Sucic S et al.

Brain Research. Molecular Brain Research, 2002

The role of conserved tryptophan and acidic residues in the human dopamine transporter as characterized by site-directed mutagenesis.

Chen N et al.

Journal of Neurochemistry, 2001

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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."