Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.G27fs

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.G27fs
c.79_80fs
Surrounding Variants
2 papers
NM_006516.4
p.G27R
c.79G>C
1 paper
NM_006516.4
p.G27S
c.79G>A
2 papers
NM_006516.4
p.G27V
c.80G>T
1 paper
NM_006516.4
p.G17_Q25del9
c.49_74del27
1 paper
NM_006516.4
p.Q25H
c.75G>T
2 papers
NM_006516.4
p.Q25H
c.75G>C
5 papers
NM_006516.4
p.Y28*
c.84C>G
5 papers
NM_006516.4
p.Y28*
c.84C>A
1 paper
NM_006516.4
p.Q25R
c.74A>G
2 papers
NM_006516.4
p.Q25*
c.73C>T
4 papers
NM_006516.4
p.Q25K
c.73C>A
1 paper
NM_006516.4
p.N29fs
c.85_86fs
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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."