Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.G17E

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
1 paper
NM_006516.4
p.G17E
c.50G>A
Surrounding Variants
1 paper
NM_006516.4
p.G17A
c.50G>C
2 papers
NM_006516.4
p.G17*
c.49G>T
2 papers
NM_006516.4
p.G17R
c.49G>C
3 papers
NM_006516.4
p.G17R
c.49G>A
1 paper
NM_006516.4
p.G18insFs
c.52_53insT
4 papers
NM_006516.4
p.V16_G17insFs
c.48_49insC
1 paper
NM_006516.4
p.V16fs
c.46_47fs
5 papers
NM_006516.4
p.G18R
c.52G>C
5 papers
NM_006516.4
p.G18R
c.52G>A
2 papers
NM_006516.4
p.V16A
c.47T>C
1 paper
NM_006516.4
p.V16insFs
c.46_47ins7
1 paper
NM_006516.4
p.G18G
c.54A>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."