Varaico: Literature-Extracted Genetic Variants

Gene:SLC1A1
Variant:p.S502A

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.S502A
c.1504T>G
Surrounding Variants
2 papers
NM_004170.6
p.V504A
c.1511T>C
1 paper
NM_004170.6
p.S497S
c.1491A>G
1 paper
NM_004170.6
p.G506A
c.1517G>C
1 paper
NM_004170.6
p.G507A
c.1520G>C
1 paper
NM_004170.6
p.D496N
c.1486G>A
1 paper
NM_004170.6
p.L492P
c.1475T>C
1 paper
NM_004170.6
p.D514_T515insFs
c.1542_1543insCT
1 paper
NM_004170.6
p.T521I
c.1562C>T
1 paper
NM_004170.6
p.S522T
c.1564T>A
1 paper
NM_004170.6
p.S522A
c.1564T>G
1 paper
NM_004170.6
p.S522S
c.1566A>G
1 paper
NM_004170.6
p.N480D
c.1438A>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."