Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.E209fs

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.E209fs
c.625_626fs
Surrounding Variants
3 papers
NM_006516.4
p.E209D
c.627G>T
3 papers
NM_006516.4
p.E209D
c.627G>C
1 paper
NM_006516.4
p.E209delins
c.626_627delinsCC
1 paper
NM_006516.4
p.E209A
c.626A>C
1 paper
NM_006516.4
p.E209Fs
c.625delinsGTFs
2 papers
NM_006516.4
p.E209*
c.625G>T
1 paper
NM_006516.4
p.E209Q
c.625G>C
2 papers
NM_006516.4
p.E209K
c.625G>A
1 paper
NM_006516.4
p.P208_E209delins
c.624_625delinsGT
1 paper
NM_006516.4
p.P208delFs
c.624delG
1 paper
NM_006516.4
p.E209fs
c.625_626fs
1 paper
NM_006516.4
p.C207_P208Fs
c.621_624delinsGAAFs
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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."