Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A4
Variant:p.I425L
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SLC6A4

NM_001045.6:p.I425L

Associated Papers

Modulation of Autism-Associated Serotonin Transporters by Palmitoylation: Insights into the Molecular Pathogenesis and Targeted Therapies for Autism Spectrum Disorder.

Brown CR et al.

Acs Chemical Neuroscience, 2025

Modulation of autism-associated serotonin transporters by palmitoylation: Insights into the molecular pathogenesis and targeted therapies for autism spectrum disorder.

Brown CR et al.

Biorxiv : the Preprint Server for Biology, 2025

Serotonin Transporter Ala276 Mouse: Novel Model to Assess the Neurochemical and Behavioral Impact of Thr276 Phosphorylation In Vivo.

Meinke C et al.

Neurochemical Research, 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

Rare Opportunities for Insights Into Serotonergic Contributions to Brain and Bowel Disorders: Studies of the SERT Ala56 Mouse.

Stilley SE et al.

Frontiers in Cellular Neuroscience, 2021

A review of the role of serotonin system genes in obsessive-compulsive disorder.

Sinopoli VM et al.

Neuroscience and Biobehavioral Reviews, 2017

The serotonin system in autism spectrum disorder: From biomarker to animal models.

Muller CL et al.

Neuroscience, 2016

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

Chiba P et al.

Pharmacological Research, 2014

Rare coding variants of the adenosine A3 receptor are increased in autism: on the trail of the serotonin transporter regulome.

Campbell NG et al.

Molecular Autism, 2013

Consideration of allosterism and interacting proteins in the physiological functions of the serotonin transporter.

Zhong H et al.

Biochemical Pharmacology, 2012

Natural and engineered coding variation in antidepressant-sensitive serotonin transporters.

Ye R et al.

Neuroscience, 2011

Regulation of monoamine transporters: Role of transporter phosphorylation.

Ramamoorthy S et al.

Pharmacology & Therapeutics, 2011

Human serotonin transporter gene (SLC6A4) variants: their contributions to understanding pharmacogenomic and other functional G×G and G×E differences in health and disease.

Murphy DL et al.

Current Opinion in Pharmacology, 2011

Autism spectrum and obsessive-compulsive disorders: OC behaviors, phenotypes and genetics.

Jacob S et al.

Autism Research : Official Journal of the International Society for Autism Research, 2009

Modeling rare gene variation to gain insight into the oldest biomarker in autism: construction of the serotonin transporter Gly56Ala knock-in mouse.

Veenstra-Vanderweele J et al.

Journal of Neurodevelopmental Disorders, 2009

Enhanced activity of human serotonin transporter variants associated with autism.

Prasad HC et al.

Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2009

Population-based association study and contrasting linkage disequilibrium pattern reveal genetic association of SLC6A4 with autism in the Indian population from West Bengal.

Guhathakurta S et al.

Brain Research, 2008

How the serotonin story is being rewritten by new gene-based discoveries principally related to SLC6A4, the serotonin transporter gene, which functions to influence all cellular serotonin systems.

Murphy DL et al.

Neuropharmacology, 2008

A large-scale screen for coding variants in SERT/SLC6A4 in autism spectrum disorders.

Sakurai T et al.

Autism Research : Official Journal of the International Society for Autism Research, 2008

Targeting the murine serotonin transporter: insights into human neurobiology.

Murphy DL et al.

Nature Reviews. Neuroscience, 2008

A large case-control study of common functional SLC6A4 and BDNF variants in obsessive-compulsive disorder.

Wendland JR et al.

Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology, 2007

Allelic heterogeneity at the serotonin transporter locus (SLC6A4) confers susceptibility to autism and rigid-compulsive behaviors.

Sutcliffe JS et al.

American Journal of Human Genetics, 2005

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."