Varaico: Literature-Extracted Genetic Variants

Gene:SLC1A2
Variant:p.H19R

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.H19R
c.56A>G
Surrounding Variants
2 papers
NM_004171.4
p.M18L
c.52A>T
1 paper
NM_004171.4
p.M18L
c.52A>C
2 papers
NM_004171.4
p.R17Q
c.50G>A
1 paper
NM_004171.4
p.V16M
c.46G>A
1 paper
NM_004171.4
p.E15A
c.44A>C
1 paper
NM_004171.4
p.V14G
c.41T>G
1 paper
NM_004171.4
p.V14E
c.41T>A
1 paper
NM_004171.4
p.Q13delFs
c.37delG
1 paper
NM_004171.4
p.M10R
c.29T>G
1 paper
NM_004171.4
p.P28_K29insFs
c.84_85insG
1 paper
NM_004171.4
p.N9D
c.25A>G
1 paper
NM_004171.4
p.H30L
c.89A>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."