Varaico: Literature-Extracted Genetic Variants

Gene:SLC1A1
Variant:p.G91delFs

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.G91delFs
c.271delG
Surrounding Variants
1 paper
NM_004170.6
p.G91fs
c.271_272fs
1 paper
NM_004170.6
p.R93C
c.277C>T
1 paper
NM_004170.6
p.V96M
c.286G>A
1 paper
NM_004170.6
p.S84S
c.252C>A
2 papers
NM_004170.6
p.D83A
c.248A>C
1 paper
NM_004170.6
p.Y98F
c.293A>T
2 papers
NM_004170.6
p.T101A
c.301A>G
1 paper
NM_004170.6
p.T101S
c.301A>T
1 paper
NM_004170.6
p.T101S
c.302C>G
1 paper
NM_004170.6
p.V79I
c.235G>A
1 paper
NM_004170.6
p.L103H
c.308T>A
1 paper
NM_004170.6
p.V106V
c.318T>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."