Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A3
Variant:p.V382A
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SLC6A3

NM_001044.5:p.V382A

Associated Papers

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

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

Heidari E et al.

Annals of Human Genetics, 2020

Escape from homeostasis.

Nijhout HF et al.

Mathematical Biosciences, 2014

SLC6A3 coding variant Ala559Val found in two autism probands alters dopamine transporter function and trafficking.

Bowton E et al.

Translational Psychiatry, 2014

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

Defining the blanks--pharmacochaperoning of SLC6 transporters and ABC transporters.

Chiba P et al.

Pharmacological Research, 2014

Genetic influences of dopamine transport gene on alcohol dependence: a pooled analysis of 13 studies with 2483 cases and 1753 controls.

Xu M et al.

Progress in Neuro-psychopharmacology & Biological Psychiatry, 2011

Association between harmful alcohol consumption behavior and dopamine transporter (DAT1) gene polymorphisms in a male Finnish population.

Lind PA et al.

Psychiatric Genetics, 2009

Anomalous dopamine release associated with a human dopamine transporter coding variant.

Mazei-Robison MS et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2008

Genetics of dopamine and its contribution to cocaine addiction.

Haile CN et al.

Behavior Genetics, 2007

Human genetics and pharmacology of neurotransmitter transporters.

Lin Z et al.

Handbook of Experimental Pharmacology, 2006

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

Common human 5' dopamine transporter (SLC6A3) haplotypes yield varying expression levels in vivo.

Drgon T et al.

Cellular and Molecular Neurobiology, 0

SLC6 transporters: structure, function, regulation, disease association and therapeutics.

Pramod AB et al.

Molecular Aspects of Medicine, 0

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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."