Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A19
Variant:p.G284R
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SLC6A19

NM_001003841.3:p.G284R

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

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

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."