Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A6
Variant:p.A78E
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SLC6A6

NM_003043.6:p.A78E

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

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

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

Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration.

Preising MN et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2019

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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."