Varaico: Literature-Extracted Genetic Variants

Gene:SLC1A3
Variant:p.D112A
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SLC1A3

NM_004172.5:p.D112A

Associated Papers

A Mutation in Transmembrane Domain 7 (TM7) of Excitatory Amino Acid Transporters Disrupts the Substrate-dependent Gating of the Intrinsic Anion Conductance and Drives the Channel into a Constitutively Open State.

Torres-Salazar D et al.

The Journal of Biological Chemistry, 2015

Excitatory amino acid transporters: roles in glutamatergic neurotransmission.

Divito CB et al.

Neurochemistry International, 2014

Neutralizing aspartate 83 modifies substrate translocation of excitatory amino acid transporter 3 (EAAT3) glutamate transporters.

Hotzy J et al.

The Journal of Biological Chemistry, 2012

Water and urea permeation pathways of the human excitatory amino acid transporter EAAT1.

Vandenberg RJ et al.

The Biochemical Journal, 2011

A conserved aspartate determines pore properties of anion channels associated with excitatory amino acid transporter 4 (EAAT4).

Kovermann P et al.

The Journal of Biological Chemistry, 2010

Mutations in transmembrane domains 5 and 7 of the human excitatory amino acid transporter 1 affect the substrate-activated anion channel.

Huang S et al.

Biochemistry, 2007

Cooperation of the conserved aspartate 439 and bound amino acid substrate is important for high-affinity Na+ binding to the glutamate transporter EAAC1.

Tao Z et al.

The Journal of General Physiology, 2007

The chloride permeation pathway of a glutamate transporter and its proximity to the glutamate translocation pathway.

Ryan RM et al.

The Journal of Biological Chemistry, 2004

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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."