Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A3
Variant:p.A314V
Back to variants list

SLC6A3

NM_001044.5:p.A314V

Associated Papers

Alpha-methyl-para-tyrosine and amphetamine ameliorate hyperactivity in a novel mouse model of dopamine transporter deficiency syndrome.

Russo EE et al.

Embo Molecular Medicine, 2026

Dopamine Transporter Deficiency Syndrome: A Rare Case of Infantile-Onset Dystonia-Parkinsonism.

Madduluri B et al.

Journal of Movement Disorders, 2025

40262646 (PubMed )
Supplement: jmd-25057-Supplementary-Table-1.pdf

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

Ng J et al.

Cells, 2023

The 2022 Lady Estelle Wolfson lectureship on neurofilaments.

Petzold A

Journal of Neurochemistry, 2022

The dopamine transporter gene SLC6A3: multidisease risks.

Reith MEA et al.

Molecular Psychiatry, 2022

Molecular and Clinical Repercussions of GABA Transporter 1 Variants Gone Amiss: Links to Epilepsy and Developmental Spectrum Disorders.

Fischer FP et al.

Frontiers in Molecular Biosciences, 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

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

Reith MEA et al.

Bioorganic & Medicinal Chemistry Letters, 2018

Pharmacochaperoning in a Drosophila model system rescues human dopamine transporter variants associated with infantile/juvenile parkinsonism.

Asjad HMM et al.

The Journal of Biological Chemistry, 2017

Potentiating SLC transporter activity: Emerging drug discovery opportunities.

Rives ML et al.

Biochemical Pharmacology, 2017

A Caenorhabditis elegans model to study dopamine transporter deficiency syndrome.

Illiano P et al.

The European Journal of Neuroscience, 2017

Pharmacological Chaperones of the Dopamine Transporter Rescue Dopamine Transporter Deficiency Syndrome Mutations in Heterologous Cells.

Beerepoot P et al.

The Journal of Biological Chemistry, 2016

Genetic targeting of the amphetamine and methylphenidate-sensitive dopamine transporter: on the path to an animal model of attention-deficit hyperactivity disorder.

Mergy MA et al.

Neurochemistry International, 2014

'That DAT' gene that causes dystonia-parkinsonism: broadening the phenotype.

Bhatia KP

Brain : a Journal of Neurology, 2014

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."