Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.V140L

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.V140L
c.418G>C
Surrounding Variants
10 papers
NM_006516.4
p.V140M
c.418G>A
3 papers
NM_006516.4
p.G138D
c.413G>A
1 paper
NM_006516.4
p.G138C
c.412G>T
2 papers
NM_006516.4
p.G138R
c.412G>C
1 paper
NM_006516.4
p.T137delFs
c.410_411delTG
1 paper
NM_006516.4
p.M142V
c.424A>G
5 papers
NM_006516.4
p.M142K
c.425T>A
1 paper
NM_006516.4
p.T137fs
c.409_410fs
1 paper
NM_006516.4
p.M142I
c.426G>T
1 paper
NM_006516.4
p.M142fs
c.424_425fs
4 papers
NM_006516.4
p.T137I
c.410C>T
3 papers
NM_006516.4
p.T137A
c.409A>G
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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."