Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.L188L

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
2 papers
NM_006516.4
p.L188L
c.562C>T
Surrounding Variants
3 papers
NM_006516.4
p.L188V
c.562C>G
4 papers
NM_006516.4
p.L188insFs
c.562_563insC
1 paper
NM_006516.4
p.L188P
c.563T>C
1 paper
NM_006516.4
p.L188Q
c.563T>A
1 paper
NM_006516.4
p.P187P
c.561C>T
1 paper
NM_006516.4
p.P187P
c.561C>G
1 paper
NM_006516.4
p.P187P
c.561C>A
1 paper
NM_006516.4
p.L188fs
c.562_563fs
1 paper
NM_006516.4
p.P187H
c.560C>A
1 paper
NM_006516.4
p.L185_P187Fs
c.554_559delinsTGTGFs
1 paper
NM_006516.4
p.P187T
c.559C>A
2 papers
NM_006516.4
p.W186*
c.558G>A
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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."