Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.Q283insFs

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.Q283insFs
c.848_849insA
Surrounding Variants
1 paper
NM_006516.4
p.L284V
c.850C>G
2 papers
NM_006516.4
p.Q283R
c.848A>G
1 paper
NM_006516.4
p.L284P
c.851T>C
8 papers
NM_006516.4
p.Q283*
c.847C>T
1 paper
NM_006516.4
p.Q283K
c.847C>A
1 paper
NM_006516.4
p.S285P
c.853T>C
4 papers
NM_006516.4
p.Q282L
c.845A>T
6 papers
NM_006516.4
p.Q282*
c.844C>T
1 paper
NM_006516.4
p.S285F
c.854C>T
2 papers
NM_006516.4
p.S285C
c.854C>G
1 paper
NM_006516.4
p.S285_G286ins4
c.855_856ins12
1 paper
NM_006516.4
p.S285_G286ins4
c.855_856ins12
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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."