Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A19
Variant:p.A69T
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SLC6A19

NM_001003841.3:p.A69T

Associated Papers

Structural Dynamics of Neutral Amino Acid Transporter SLC6A19 in Simple and Complex Lipid Bilayers.

Dehury B et al.

Journal of Cellular Biochemistry, 2025

Hartnup disease-causing SLC6A19 mutations lead to B0AT1 aberrant trafficking and ACE2 mis-localisation implicating the endoplasmic reticulum protein quality control.

Alkhofash NF et al.

Frontiers in Cell and Developmental Biology, 2025

Mechanisms involved in aminoacidurias: impacts of genetic and environmental factors.

Ajayi JA et al.

Current Research in Physiology, 2025

Pan-Cancer Analysis of Genomic and Prognostic Characteristics Associated With Coronavirus Disease 2019 Regulators.

Zhang J et al.

Frontiers in Medicine, 2021

34458283 (PubMed )
Supplement: Table_1.XLS › SLC6A19

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

Chiba P et al.

Pharmacological Research, 2014

Angiotensin-converting enzyme 2 (ACE2) in disease pathogenesis.

Imai Y et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2010

The role of the neutral amino acid transporter B0AT1 (SLC6A19) in Hartnup disorder and protein nutrition.

Bröer S

Iubmb Life, 2009

Tissue-specific amino acid transporter partners ACE2 and collectrin differentially interact with hartnup mutations.

Camargo SM et al.

Gastroenterology, 2009

Collectrin and ACE2 in renal and intestinal amino acid transport.

Singer D et al.

Channels (austin, Tex.), 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."