Varaico: Literature-Extracted Genetic Variants

Gene:SLC1A3
Variant:p.M128R
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SLC1A3

NM_004172.5:p.M128R

Associated Papers

Molecular insights into disease-associated glutamate transporter (EAAT1 / SLC1A3) variants using in silico and in vitro approaches.

Gorostiola González M et al.

Frontiers in Molecular Biosciences, 2023

Ataxia-linked SLC1A3 mutations alter EAAT1 chloride channel activity and glial regulation of CNS function.

Wu Q et al.

The Journal of Clinical Investigation, 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

Cellular Physiology and Pathophysiology of EAAT Anion Channels.

Kovermann P et al.

Frontiers in Cellular Neuroscience, 2021

Functional consequences of SLC1A3 mutations associated with episodic ataxia 6.

Chivukula AS et al.

Human Mutation, 2020

A novel mutation in SLC1A3 causes episodic ataxia.

Iwama K et al.

Journal of Human Genetics, 2018

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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."