Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.Q161H

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.Q161H
c.483G>T
Surrounding Variants
1 paper
NM_006516.4
p.Q161H
c.483G>C
1 paper
NM_006516.4
p.L162V
c.484C>G
2 papers
NM_006516.4
p.Q161L
c.482A>T
3 papers
NM_006516.4
p.Q161R
c.482A>G
1 paper
NM_006516.4
p.L162P
c.485T>C
4 papers
NM_006516.4
p.Q161*
c.481C>T
1 paper
NM_006516.4
p.Q161E
c.481C>G
1 paper
NM_006516.4
p.L162L
c.486G>T
1 paper
NM_006516.4
p.H160Q
c.480C>G
1 paper
NM_006516.4
p.H160insFs
c.479dupA
1 paper
NM_006516.4
p.H160Q
c.480C>A
1 paper
NM_006516.4
p.G163R
c.487G>C
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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."