Varaico: Literature-Extracted Genetic Variants

Gene:SLC1A2
Variant:p.N343insFs

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.N343insFs
c.1027dupA
Surrounding Variants
1 paper
NM_004171.4
p.V339L
c.1015G>T
1 paper
NM_004171.4
p.V339L
c.1015G>C
1 paper
NM_004171.4
p.Q353*
c.1057C>T
1 paper
NM_004171.4
p.L359V
c.1075C>G
1 paper
NM_004171.4
p.L359P
c.1076T>C
1 paper
NM_004171.4
p.G360A
c.1079G>C
1 paper
NM_004171.4
p.A362D
c.1085C>A
2 papers
NM_004171.4
p.S363C
c.1088C>G
1 paper
NM_004171.4
p.S364N
c.1091G>A
1 paper
NM_004171.4
p.V318L
c.952G>T
1 paper
NM_004171.4
p.V318L
c.952G>C
1 paper
NM_004171.4
p.A310T
c.928G>A
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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."