Varaico: Literature-Extracted Genetic Variants

Gene:SLC1A2
Variant:p.E217A

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.E217A
c.650A>C
Surrounding Variants
1 paper
NM_004171.4
p.E217G
c.650A>G
1 paper
NM_004171.4
p.E217Q
c.649G>C
1 paper
NM_004171.4
p.E221K
c.661G>A
1 paper
NM_004171.4
p.E224A
c.671A>C
2 papers
NM_004171.4
p.T226I
c.677C>T
1 paper
NM_004171.4
p.K227Q
c.679A>C
1 paper
NM_004171.4
p.M228L
c.682A>T
1 paper
NM_004171.4
p.M228L
c.682A>C
9 papers
NM_004171.4
p.N206S
c.617A>G
1 paper
NM_004171.4
p.V229A
c.686T>C
1 paper
NM_004171.4
p.V229_I230del2
c.685_689del6
1 paper
NM_004171.4
p.D202D
c.606C>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."