Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.S285P

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.S285P
c.853T>C
Surrounding Variants
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
1 paper
NM_006516.4
p.L284P
c.851T>C
3 papers
NM_006516.4
p.S281_S285del0
c.843_854del12
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
1 paper
NM_006516.4
p.L284V
c.850C>G
3 papers
NM_006516.4
p.G286fs
c.856_857fs
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