Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A2
Variant:p.A457P
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SLC6A2

NM_001172501.3:p.A457P

Associated Papers

Palmitoylation regulates norepinephrine transporter uptake, surface localization, and total expression with pathogenic implications in postural orthostatic tachycardia syndrome.

Brown CR et al.

Journal of Neurochemistry, 2025

Evaluation of single nucleotide polymorphisms in the human norepinephrine transporter (hNET) gene for structural, functional, and pathogenic significance.

Avsar O

Nucleosides, Nucleotides & Nucleic Acids, 2025

Palmitoylation regulates norepinephrine transporter trafficking and expression and is potentially involved in the pathogenesis of postural orthostatic tachycardia syndrome.

Brown CR et al.

Biorxiv : the Preprint Server for Biology, 2024

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

How to rescue misfolded SERT, DAT and NET: targeting conformational intermediates with atypical inhibitors and partial releasers.

Bhat S et al.

Biochemical Society Transactions, 2019

Riggs-type dominant congenital stationary night blindness: ERG findings, a new GNAT1 mutation and a systemic association.

Marmor MF et al.

Documenta Ophthalmologica. Advances in Ophthalmology, 2018

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

Chiba P et al.

Pharmacological Research, 2014

The SLC6 transporters: perspectives on structure, functions, regulation, and models for transporter dysfunction.

Rudnick G et al.

Pflugers Archiv : European Journal of Physiology, 2014

Norepinephrine transporter variant A457P knock-in mice display key features of human postural orthostatic tachycardia syndrome.

Shirey-Rice JK et al.

Disease Models & Mechanisms, 2013

Epigenetic modification of the norepinephrine transporter gene in postural tachycardia syndrome.

Bayles R et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2012

Genetic variation in the presynaptic norepinephrine transporter is associated with blood pressure responses to exercise in healthy humans.

Kohli U et al.

Pharmacogenetics and Genomics, 2011

Novel and functional norepinephrine transporter protein variants identified in attention-deficit hyperactivity disorder.

Hahn MK et al.

Neuropharmacology, 2009

Hemodynamic parameters and heart rate variability during a tilt test in relation to gene polymorphism of renin-angiotensin and serotonin system.

Mitro P et al.

Pacing and Clinical Electrophysiology : Pace, 2008

Glycine transporter dimers: evidence for occurrence in the plasma membrane.

Bartholomäus I et al.

The Journal of Biological Chemistry, 2008

Functional gene variation in the human norepinephrine transporter: association with attention deficit hyperactivity disorder.

Kim CH et al.

Annals of the New York Academy of Sciences, 2008

A polymorphism in the norepinephrine transporter gene alters promoter activity and is associated with attention-deficit hyperactivity disorder.

Kim CH et al.

Proceedings of the National Academy of Sciences of the United States of America, 2006

Familial orthostatic tachycardia.

Keller NR et al.

Current Opinion in Cardiology, 2006

The norepinephrine transporter in physiology and disease.

Bönisch H et al.

Handbook of Experimental Pharmacology, 2006

[Genetics in neurocardiogenic syncope].

Lelonek M

Przeglad Lekarski, 2006

Single nucleotide polymorphisms in the human norepinephrine transporter gene affect expression, trafficking, antidepressant interaction, and protein kinase C regulation.

Hahn MK et al.

Molecular Pharmacology, 2005

A screen of candidate genes and influence of beta2-adrenergic receptor genotypes in postural tachycardia syndrome.

Nickander KK et al.

Autonomic Neuroscience : Basic & Clinical, 2005

Association of distinct alpha(2) adrenoceptor and serotonin transporter polymorphisms with constipation and somatic symptoms in functional gastrointestinal disorders.

Kim HJ et al.

Gut, 2004

Haplotype architecture of the norepinephrine transporter gene SLC6A2 in four populations.

Belfer I et al.

Journal of Human Genetics, 2004

A mutation in the human norepinephrine transporter gene (SLC6A2) associated with orthostatic intolerance disrupts surface expression of mutant and wild-type transporters.

Hahn MK et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2003

Orthostatic intolerance is not necessarily related to a specific mutation (Ala457Pro) in the human norepinephrine transporter gene.

Ivancsits S et al.

The American Journal of the Medical Sciences, 2003

The broader view: catecholamine abnormalities.

Vincent S et al.

Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society, 2002

Biogenic amine transporters: regulation in flux.

Blakely RD et al.

Current Opinion in Neurobiology, 2000

Orthostatic intolerance and tachycardia associated with norepinephrine-transporter deficiency.

Shannon JR et al.

The New England Journal of Medicine, 2000

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