Varaico: Literature-Extracted Genetic Variants

Gene:SLC1A1
Variant:p.I266F

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.I266F
c.796A>T
Surrounding Variants
1 paper
NM_004170.6
p.G261D
c.782G>A
2 papers
NM_004170.6
p.P259R
c.776C>G
1 paper
NM_004170.6
p.C256Splc
c.768-4C>T
3 papers
NM_004170.6
p.R280C
c.838C>T
1 paper
NM_004170.6
p.R280H
c.839G>A
1 paper
NM_004170.6
p.R280L
c.839G>T
1 paper
NM_004170.6
p.G292Splc
c.875+1G>A
1 paper
NM_004170.6
p.G292Splc
c.875+2T>G
1 paper
NM_004170.6
p.V251I
c.751G>A
1 paper
NM_004170.6
p.F239L
c.717C>A
1 paper
NM_004170.6
p.G233G
c.699A>C
1 paper
NM_004170.6
p.K198N
c.594G>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."