Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.S313Y

SLC2A1

1,013 papers

RefSeq Summary

This gene encodes a major glucose transporter in the mammalian blood-brain barrier. The encoded protein is found primarily in the cell membrane and on the cell surface, where it can also function as a...

Pfam Domains

Sugar_traa 15–467UCSCSugar (and other) transporter

Gene Aliases

HGNC Name

solute carrier family 2 member 1

HGNC Previous Symbols

GLUT1; GLUT; HTLVR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_006516.4
p.S313Y
c.938C>A
Surrounding Variants
3 papers
NM_006516.4
p.S313F
c.938C>T
1 paper
NM_006516.4
p.S313C
c.938C>G
2 papers
NM_006516.4
p.S313fs
c.937_938fs
1 paper
NM_006516.4
p.G314C
c.940G>T
1 paper
NM_006516.4
p.S313insFs
c.939dupC
1 paper
NM_006516.4
p.G314R
c.940G>C
22 papers
NM_006516.4
p.G314S
c.940G>A
1 paper
NM_006516.4
p.G312A
c.935G>C
2 papers
NM_006516.4
p.G314D
c.941G>A
1 paper
NM_006516.4
p.G312D
c.935G>A
1 paper
NM_006516.4
p.G314fs
c.940_941fs
1 paper
NM_006516.4
p.G312C
c.934G>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."