Varaico: Literature-Extracted Genetic Variants

Gene:SLC1A1
Variant:p.I395del1

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
4 papers
NM_004170.6
p.I395del1
c.1183_1184delATC
Surrounding Variants
1 paper
NM_004170.6
p.Q393H
c.1179G>C
1 paper
NM_004170.6
p.Q393H
c.1179G>T
1 paper
NM_004170.6
p.I397V
c.1189A>G
1 paper
NM_004170.6
p.G390S
c.1168G>A
1 paper
NM_004170.6
p.G390R
c.1168G>C
1 paper
NM_004170.6
p.L389V
c.1165T>G
1 paper
NM_004170.6
p.E374D
c.1122A>C
1 paper
NM_004170.6
p.E374D
c.1122A>T
1 paper
NM_004170.6
p.E374Q
c.1120G>C
1 paper
NM_004170.6
p.A371A
c.1113G>A
2 papers
NM_004170.6
p.T370T
c.1110T>C
1 paper
NM_004170.6
p.T370S
c.1109C>G
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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."