Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A3
Variant:p.G386R
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SLC6A3

NM_001044.5:p.G386R

Associated Papers

Dopamine Transporter Deficiency Syndrome (DTDS): Expanding the Clinical Phenotype and Precision Medicine Approaches.

Ng J et al.

Cells, 2023

The dopamine transporter gene SLC6A3: multidisease risks.

Reith MEA et al.

Molecular Psychiatry, 2022

Structure-Activity Relationships of Dopamine Transporter Pharmacological Chaperones.

Sutton C et al.

Frontiers in Cellular Neuroscience, 2022

Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits.

Bhat S et al.

Pharmacology & Therapeutics, 2021

Tropane-Based Ibogaine Analog Rescues Folding-Deficient Serotonin and Dopamine Transporters.

Bhat S et al.

Acs Pharmacology & Translational Science, 2021

Homozygous in-frame variant of SCL6A3 causes dopamine transporter deficiency syndrome in a consanguineous family.

Heidari E et al.

Annals of Human Genetics, 2020

Latch and trigger role for R445 in DAT transport explains molecular basis of DTDS.

Reith MEA et al.

Bioorganic & Medicinal Chemistry Letters, 2018

SLC6 Transporter Folding Diseases and Pharmacochaperoning.

Freissmuth M et al.

Handbook of Experimental Pharmacology, 2018

Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood.

Ng J et al.

Brain : a Journal of Neurology, 2014

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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."