Varaico: Literature-Extracted Genetic Variants

Gene:SLC1A1

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
1–12 of 162 variants
8 papers
NM_004170.6
p.R445W
c.1333C>T
5 papers
NM_004170.6
p.T164A
c.490A>G
5 papers
NM_004170.6
p.W441C
c.1323G>C
5 papers
NM_004170.6
p.W441C
c.1323G>T
4 papers
NM_004170.6
p.I395del1
c.1183_1184delATC
3 papers
NM_004170.6
p.I146L
c.436A>C
3 papers
NM_004170.6
p.F150I
c.448T>A
3 papers
NM_004170.6
p.R280C
c.838C>T
2 papers
NM_004170.6
p.P4insFs
c.11dupC
2 papers
NM_004170.6
p.E48*
c.142G>T
2 papers
NM_004170.6
p.G56A
c.167G>C
2 papers
NM_004170.6
p.D83A
c.248A>C
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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."