Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1

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
1–12 of 1243 variants
64 papers
NM_006516.4
p.R126C
c.376C>T
64 papers
NM_006516.4
p.R333W
c.997C>T
43 papers
NM_006516.4
p.R126H
c.377G>A
33 papers
NM_006516.4
p.R153C
c.457C>T
33 papers
NM_006516.4
p.T295M
c.884C>T
31 papers
NM_006516.4
p.T310I
c.929C>T
26 papers
NM_006516.4
p.R330*
c.988C>T
24 papers
NM_006516.4
p.N34S
c.101A>G
24 papers
NM_006516.4
p.G91D
c.272G>A
24 papers
NM_006516.4
p.R223W
c.667C>T
23 papers
NM_006516.4
p.S66F
c.197C>T
23 papers
NM_006516.4
p.A275T
c.823G>A
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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."