Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A19
Variant:p.E501K
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SLC6A19

NM_001003841.3:p.E501K

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

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

Ajayi JA et al.

Current Research in Physiology, 2025

NAD+ homeostasis in human health and disease.

Zapata-Pérez R et al.

Embo Molecular Medicine, 2021

A non-helical region in transmembrane helix 6 of hydrophobic amino acid transporter MhsT mediates substrate recognition.

Focht D et al.

The Embo Journal, 2021

Study of Seizure-Manifested Hartnup Disorder Case Induced By Novel Mutations in SLC6A19.

Zhu Y et al.

Open Life Sciences, 2018

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

Chiba P et al.

Pharmacological Research, 2014

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

Bröer S

Iubmb Life, 2009

A novel missense mutation in the SLC6A19 gene in a Chinese family with Hartnup disorder.

Zheng Y et al.

International Journal of Dermatology, 2009

The molecular basis of neutral aminoacidurias.

Bröer A et al.

Pflugers Archiv : European Journal of Physiology, 2006

Neutral amino acid transport in epithelial cells and its malfunction in Hartnup disorder.

Bröer S et al.

Biochemical Society Transactions, 2005

Hartnup disorder: unraveling the mystery.

Kraut JA et al.

Trends in Pharmacological Sciences, 2005

Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19.

Seow HF et al.

Nature Genetics, 2004

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."