Varaico: Literature-Extracted Genetic Variants

Gene:SLC1A1
Variant:p.I146L

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
3 papers
NM_004170.6
p.I146L
c.436A>C
Surrounding Variants
1 paper
NM_004170.6
p.I146V
c.436A>G
1 paper
NM_004170.6
p.L143S
c.428T>C
1 paper
NM_004170.6
p.V139L
c.415G>C
1 paper
NM_004170.6
p.T133I
c.398C>T
1 paper
NM_004170.6
p.V124A
c.371T>C
2 papers
NM_004170.6
p.K123Q
c.367A>C
1 paper
NM_004170.6
p.K117E
c.349A>G
1 paper
NM_004170.6
p.G109Splc
c.326-1G>A
1 paper
NM_004170.6
p.R147Splc
c.441-2A>G
1 paper
NM_004170.6
p.M149I
c.447G>A
2 papers
NM_004170.6
p.M149I
c.447G>C
1 paper
NM_004170.6
p.M149I
c.447G>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."