Varaico: Literature-Extracted Genetic Variants

Gene:SLC1A1
Variant:p.A27A

SLC1A1

167 papers

RefSeq Summary

This gene encodes a member of the high-affinity glutamate transporters that play an essential role in transporting glutamate across plasma membranes. In brain, these transporters are crucial in termin...

Pfam Domains

SDFaa 19–465UCSCSodium:dicarboxylate symporter family

Gene Aliases

HGNC Name

solute carrier family 1 member 1

HGNC Alias Symbols

EAAC1; EAAT3; hEAAC1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004170.6
p.A27A
c.81G>C
Surrounding Variants
1 paper
NM_004170.6
p.V28M
c.82G>A
1 paper
NM_004170.6
p.G31D
c.92G>A
1 paper
NM_004170.6
p.L21delFs
c.63delG
1 paper
NM_004170.6
p.W19*
c.56G>A
1 paper
NM_004170.6
p.K7I
c.20A>T
2 papers
NM_004170.6
p.P4insFs
c.11dupC
1 paper
NM_004170.6
p.G2R
c.4G>A
1 paper
NM_004170.6
p.M1insFs
c.2dupT
1 paper
NM_004170.6
p.G31Splc
c.91+1156C>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."