Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A3
Variant:p.R615C
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SLC6A3

NM_001044.5:p.R615C

Associated Papers

Trio Whole Exome Sequencing in Chinese Childhood-Onset Lupus Reveals Novel Candidate Genes.

Ma J et al.

Arthritis & Rheumatology (hoboken, N.j.), 2025

40386946 (PubMed )
Supplement: EMS206315-supplement-Supplementary_Table_5.xlsx › Sheet1

The Ins and Outs of Dopamine Transporter Gene Manipulation: In Vivo Models of DAT Dysfunction.

Stewart A et al.

Advances in Neurobiology, 2025

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

Exploring the biological role of postzygotic and germinal de novo mutations in ASD.

Alonso-Gonzalez A et al.

Scientific Reports, 2021

33431980 (PubMed )
Supplement: 41598_2020_79412_MOESM1_ESM.xlsx › supplementary_table_14

Ex vivo Quantitative Proteomic Analysis of Serotonin Transporter Interactome: Network Impact of the SERT Ala56 Coding Variant.

Quinlan MA et al.

Frontiers in Molecular Neuroscience, 2020

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

Herborg F et al.

The Journal of Biological Chemistry, 2018

The Atypical MAP Kinase SWIP-13/ERK8 Regulates Dopamine Transporters through a Rho-Dependent Mechanism.

Bermingham DP et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2017

Potentiating SLC transporter activity: Emerging drug discovery opportunities.

Rives ML et al.

Biochemical Pharmacology, 2017

Sequence determinants of the Caenhorhabditis elegans dopamine transporter dictating in vivo axonal export and synaptic localization.

Robinson SB et al.

Molecular and Cellular Neurosciences, 2017

Ack1 is a dopamine transporter endocytic brake that rescues a trafficking-dysregulated ADHD coding variant.

Wu S et al.

Proceedings of the National Academy of Sciences of the United States of America, 2015

Single-quantum-dot tracking reveals altered membrane dynamics of an attention-deficit/hyperactivity-disorder-derived dopamine transporter coding variant.

Kovtun O et al.

Acs Chemical Neuroscience, 2015

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

Missense dopamine transporter mutations associate with adult parkinsonism and ADHD.

Hansen FH et al.

The Journal of Clinical Investigation, 2014

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

Chiba P et al.

Pharmacological Research, 2014

Transgenic mouse models for ADHD.

Leo D et al.

Cell and Tissue Research, 2013

Attention deficit/hyperactivity disorder-derived coding variation in the dopamine transporter disrupts microdomain targeting and trafficking regulation.

Sakrikar D et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2012

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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."