Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.H337Q

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.H337Q
c.1011C>G
Surrounding Variants
3 papers
NM_006516.4
p.H337H
c.1011C>T
1 paper
NM_006516.4
p.H337Q
c.1011C>A
1 paper
NM_006516.4
p.H337_L338ins5
c.1009_1013ins15
1 paper
NM_006516.4
p.L336fs
c.1006_1007fs
2 papers
NM_006516.4
p.L336delFs
c.1006delG
1 paper
NM_006516.4
p.I339T
c.1016T>C
1 paper
NM_006516.4
p.L336fs
c.1006_1007fs
2 papers
NM_006516.4
p.L336V
c.1006C>G
1 paper
NM_006516.4
p.I339insFs
c.1016dupT
1 paper
NM_006516.4
p.G340C
c.1018G>T
1 paper
NM_006516.4
p.R334R
c.1002G>A
1 paper
NM_006516.4
p.G340fs
c.1018_1019fs
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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."