Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.S178S

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.S178S
c.534C>G
Surrounding Variants
1 paper
NM_006516.4
p.S178C
c.533C>G
1 paper
NM_006516.4
p.V173_D177del0
c.517_531del15
1 paper
NM_006516.4
p.D177V
c.530A>T
1 paper
NM_006516.4
p.M180L
c.538A>C
4 papers
NM_006516.4
p.M180K
c.539T>A
1 paper
NM_006516.4
p.D177N
c.529G>A
1 paper
NM_006516.4
p.M180fs
c.538_539fs
1 paper
NM_006516.4
p.M180delFs
c.539delA
1 paper
NM_006516.4
p.G181R
c.541G>C
1 paper
NM_006516.4
p.G181S
c.541G>A
1 paper
NM_006516.4
p.G175_L176insFs
c.525_526ins7
1 paper
NM_006516.4
p.G175V
c.524G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."