Varaico: Literature-Extracted Genetic Variants

Gene:SLC1A1
Variant:p.S193C

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.S193C
c.578C>G
Surrounding Variants
1 paper
NM_004170.6
p.A186insFs
c.557_558insG
1 paper
NM_004170.6
p.S183C
c.548C>G
1 paper
NM_004170.6
p.S183F
c.548C>T
1 paper
NM_004170.6
p.T180A
c.538A>G
1 paper
NM_004170.6
p.N178T
c.533A>C
1 paper
NM_004170.6
p.E176A
c.527A>C
2 papers
NM_004170.6
p.D174N
c.520G>A
1 paper
NM_004170.6
p.S173C
c.517A>T
1 paper
NM_004170.6
p.V169V
c.507G>A
1 paper
NM_004170.6
p.R166R
c.498T>A
1 paper
NM_004170.6
p.R166delFs
c.498delT
5 papers
NM_004170.6
p.T164A
c.490A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."