Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.I287L

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.I287L
c.859A>C
Surrounding Variants
14 papers
NM_006516.4
p.G286D
c.857G>A
3 papers
NM_006516.4
p.G286C
c.856G>T
1 paper
NM_006516.4
p.S285_G286insFs
c.855_856insTT
1 paper
NM_006516.4
p.G286ins4
c.856_857ins12
2 papers
NM_006516.4
p.S285del1
c.853_854delAGA
3 papers
NM_006516.4
p.G286fs
c.856_857fs
1 paper
NM_006516.4
p.S285_G286ins4
c.855_856ins12
1 paper
NM_006516.4
p.S285_G286ins4
c.855_856ins12
3 papers
NM_006516.4
p.S281_S285del0
c.843_854del12
1 paper
NM_006516.4
p.N288I
c.863A>T
1 paper
NM_006516.4
p.S285F
c.854C>T
2 papers
NM_006516.4
p.S285C
c.854C>G
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