Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A19
Variant:p.R57C
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SLC6A19

NM_001003841.3:p.R57C

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

SARS-CoV-2 (COVID-19) structural and evolutionary dynamicome: Insights into functional evolution and human genomics.

Gupta R et al.

The Journal of Biological Chemistry, 2020

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

Further evidence for allelic heterogeneity in Hartnup disorder.

Azmanov DN et al.

Human Mutation, 2008

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

Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder.

Kleta R 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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