Varaico: Literature-Extracted Genetic Variants

Gene:SLC1A2
Variant:p.N206S
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SLC1A2

NM_004171.4:p.N206S

Associated Papers

Structural insights into inhibitory mechanism of human excitatory amino acid transporter EAAT2.

Kato T et al.

Nature Communications, 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

Transport rate of EAAT2 is regulated by amino acid located at the interface between the scaffolding and substrate transport domains.

Duffield M et al.

Neurochemistry International, 2020

The endoplasmic reticulum exit of glutamate transporter is regulated by the inducible mammalian Yip6b/GTRAP3-18 protein.

Ruggiero AM et al.

The Journal of Biological Chemistry, 2008

Amyotrophic lateral sclerosis: from current developments in the laboratory to clinical implications.

Cozzolino M et al.

Antioxidants & Redox Signaling, 2008

The glutamate/neutral amino acid transporter family SLC1: molecular, physiological and pharmacological aspects.

Kanai Y et al.

Pflugers Archiv : European Journal of Physiology, 2004

The glutamate and neutral amino acid transporter family: physiological and pharmacological implications.

Kanai Y et al.

European Journal of Pharmacology, 2003

Amyotrophic lateral sclerosis-linked glutamate transporter mutant has impaired glutamate clearance capacity.

Trotti D et al.

The Journal of Biological Chemistry, 2001

Mutations in the glutamate transporter EAAT2 gene do not cause abnormal EAAT2 transcripts in amyotrophic lateral sclerosis.

Aoki M et al.

Annals of Neurology, 1998

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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."