Varaico: Literature-Extracted Genetic Variants

Gene:SLC1A2
Variant:p.L134Q

SLC1A2

381 papers

RefSeq Summary

This gene encodes a member of a family of solute transporter proteins. The membrane-bound protein is the principal transporter that clears the excitatory neurotransmitter glutamate from the extracellu...

Pfam Domains

SDFaa 46–496UCSCSodium:dicarboxylate symporter family

Gene Aliases

HGNC Name

solute carrier family 1 member 2

HGNC Alias Symbols

GLT-1; GLT1; EAAT2; HBGT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004171.4
p.L134Q
c.401T>A
Surrounding Variants
1 paper
NM_004171.4
p.A132P
c.394G>C
1 paper
NM_004171.4
p.I137L
c.409A>C
3 papers
NM_004171.4
p.T128S
c.382A>T
1 paper
NM_004171.4
p.T127M
c.380C>T
1 paper
NM_004171.4
p.S126S
c.378C>T
1 paper
NM_004171.4
p.Y124C
c.371A>G
1 paper
NM_004171.4
p.Y124H
c.370T>C
1 paper
NM_004171.4
p.N146H
c.436A>C
1 paper
NM_004171.4
p.M121T
c.362T>C
1 paper
NM_004171.4
p.M121L
c.361A>C
1 paper
NM_004171.4
p.R119S
c.357A>C
1 paper
NM_004171.4
p.T118M
c.353C>T
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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."