Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.S294T

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.S294T
c.880T>A
Surrounding Variants
4 papers
NM_006516.4
p.S294A
c.880T>G
5 papers
NM_006516.4
p.S294P
c.880T>C
2 papers
NM_006516.4
p.S294F
c.881C>T
1 paper
NM_006516.4
p.S294C
c.881C>G
3 papers
NM_006516.4
p.Y293F
c.878A>T
1 paper
NM_006516.4
p.Y293C
c.878A>G
1 paper
NM_006516.4
p.Y293S
c.878A>C
1 paper
NM_006516.4
p.Y293insFs
c.877dupT
1 paper
NM_006516.4
p.Y293H
c.877T>C
4 papers
NM_006516.4
p.T295S
c.883A>T
2 papers
NM_006516.4
p.T295A
c.883A>G
1 paper
NM_006516.4
p.Y292fs
c.874_875fs
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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."