Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A5
Variant:p.P375L
Back to variants list

SLC7A5

NM_003486.7:p.P375L

Associated Papers

Lysine 204 is crucial for the antiport function of the human LAT1 transporter.

Scalise M et al.

Biochimica Et Biophysica Acta. Bioenergetics, 2025

Large neutral amino acid levels tune perinatal neuronal excitability and survival.

Knaus LS et al.

Cell, 2023

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."