Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A6
Variant:p.G399V
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SLC6A6

NM_003043.6:p.G399V

Associated Papers

Molecular basis for substrate recognition and transport of mammalian taurine transporters.

Wang M et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

Dimerization and substrate recognition of human taurine transporter.

Zhang Y et al.

Nature Communications, 2025

Structural characterization reveals substrate recognition by the taurine transporter TauT.

Xu H et al.

Cell Discovery, 2025

Structural Studies of the Taurine Transporter: A Potential Biological Target from the GABA Transporter Subfamily in Cancer Therapy.

Stary D et al.

International Journal of Molecular Sciences, 2024

Taurine deficiency associated with dilated cardiomyopathy and aging.

Ito T et al.

Journal of Pharmacological Sciences, 2024

A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.

Munir A et al.

Bmc Ophthalmology, 2024

Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies.

Lipov A et al.

Nature Cardiovascular Research, 2023

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

Taurine newborn screening to prevent one form of retinal degeneration and cardiomyopathy.

Antonarakis SE

European Journal of Human Genetics : Ejhg, 2020

Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency.

Ansar M et al.

Human Molecular Genetics, 2020

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