Varaico: Literature-Extracted Genetic Variants

Gene:SLC1A1
Variant:p.D444N

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
2 papers
NM_004170.6
p.D444N
c.1330G>A
Surrounding Variants
1 paper
NM_004170.6
p.D444A
c.1331A>C
1 paper
NM_004170.6
p.D444E
c.1332C>A
1 paper
NM_004170.6
p.D444E
c.1332C>G
8 papers
NM_004170.6
p.R445W
c.1333C>T
1 paper
NM_004170.6
p.R445Q
c.1334G>A
2 papers
NM_004170.6
p.T448A
c.1342A>G
1 paper
NM_004170.6
p.N451D
c.1351A>G
1 paper
NM_004170.6
p.N451S
c.1352A>G
1 paper
NM_004170.6
p.D455N
c.1363G>A
1 paper
NM_004170.6
p.M473R
c.1418T>G
1 paper
NM_004170.6
p.N480D
c.1438A>G
1 paper
NM_004170.6
p.L492P
c.1475T>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."