Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A5
Variant:p.A246V
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SLC7A5

NM_003486.7:p.A246V

Associated Papers

Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder.

Cascio L et al.

Molecular Genetics & Genomic Medicine, 2020

The structure of the human 4F2hc-LAT1 heteromeric amino acid transporter.

Fotiadis D et al.

Science China. Life Sciences, 2019

Structure of the human LAT1-4F2hc heteromeric amino acid transporter complex.

Yan R et al.

Nature, 2019

Slc7a5 regulates Kv1.2 channels and modifies functional outcomes of epilepsy-linked channel mutations.

Baronas VA et al.

Nature Communications, 2018

Insights into the Structure, Function, and Ligand Discovery of the Large Neutral Amino Acid Transporter 1, LAT1.

Singh N et al.

International Journal of Molecular Sciences, 2018

Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder.

Tărlungeanu DC et al.

Cell, 2016

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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."