Varaico: Literature-Extracted Genetic Variants

Gene:SLC1A1
Variant:p.R445W
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SLC1A1

NM_004170.6:p.R445W

Associated Papers

The SLC1A1/EAAT3 dicarboxylic amino acid transporter is an epigenetically dysregulated nutrient carrier that sustains oncogenic metabolic programs.

Grubb T et al.

Nature Communications, 2025

Molecular Basis of Coupled Transport and Anion Conduction in Excitatory Amino Acid Transporters.

Alleva C et al.

Neurochemical Research, 2022

Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits.

Bhat S et al.

Pharmacology & Therapeutics, 2021

Rare SLC1A1 variants in hot water epilepsy.

Karan KR et al.

Human Genetics, 2017

Structure and allosteric inhibition of excitatory amino acid transporter 1.

Canul-Tec JC et al.

Nature, 2017

The role of amino acid transporters in inherited and acquired diseases.

Bröer S et al.

The Biochemical Journal, 2011

Loss-of-function mutations in the glutamate transporter SLC1A1 cause human dicarboxylic aminoaciduria.

Bailey CG et al.

The Journal of Clinical Investigation, 2011

The SLC1 high-affinity glutamate and neutral amino acid transporter family.

Kanai Y et al.

Molecular Aspects of Medicine, 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."