Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.E299*

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.E299*
c.895G>T
Surrounding Variants
5 papers
NM_006516.4
p.E299K
c.895G>A
1 paper
NM_006516.4
p.K300*
c.898A>T
1 paper
NM_006516.4
p.A301T
c.901G>A
4 papers
NM_006516.4
p.I297insFs
c.889_890insG
2 papers
NM_006516.4
p.A301V
c.902C>T
2 papers
NM_006516.4
p.A301insFs
c.902_903insC
1 paper
NM_006516.4
p.A301fs
c.901_902fs
1 paper
NM_006516.4
p.F298_A301delFs
c.894_903del10
1 paper
NM_006516.4
p.S296C
c.886A>T
33 papers
NM_006516.4
p.T295M
c.884C>T
1 paper
NM_006516.4
p.T295K
c.884C>A
2 papers
NM_006516.4
p.V303L
c.907G>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."