Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A3
Variant:p.E602G
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SLC6A3

NM_001044.5:p.E602G

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

Leaky lessons learned: Efflux prone dopamine transporter variant reveals sex and circuit specific contributions of D2 receptor signalling to neuropsychiatric disease.

Mayer FP et al.

Basic & Clinical Pharmacology & Toxicology, 2024

The dopamine transporter gene SLC6A3: multidisease risks.

Reith MEA et al.

Molecular Psychiatry, 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

Neuropsychiatric disease-associated genetic variants of the dopamine transporter display heterogeneous molecular phenotypes.

Herborg F et al.

The Journal of Biological Chemistry, 2018

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

Human genetics and pharmacology of neurotransmitter transporters.

Lin Z et al.

Handbook of Experimental Pharmacology, 2006

ADHD and the dopamine transporter: are there reasons to pay attention?

Mazei-Robinson MS et al.

Handbook of Experimental Pharmacology, 2006

A dopamine transporter mutation associated with bipolar affective disorder causes inhibition of transporter cell surface expression.

Horschitz S et al.

Molecular Psychiatry, 2005

Expression studies of naturally occurring human dopamine transporter variants identifies a novel state of transporter inactivation associated with Val382Ala.

Mazei-Robison MS et al.

Neuropharmacology, 2005

Human dopamine transporter gene variation: effects of protein coding variants V55A and V382A on expression and uptake activities.

Lin Z et al.

The Pharmacogenomics Journal, 2003

The human dopamine transporter gene: gene organization, transcriptional regulation, and potential involvement in neuropsychiatric disorders.

Bannon MJ et al.

European Neuropsychopharmacology : the Journal of the European College of Neuropsychopharmacology, 2001

Haplotype study of three polymorphisms at the dopamine transporter locus confirm linkage to attention-deficit/hyperactivity disorder.

Barr CL et al.

Biological Psychiatry, 2001

Systematic screening for DNA sequence variation in the coding region of the human dopamine transporter gene (DAT1).

Grünhage F et al.

Molecular Psychiatry, 2000

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