Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.S148L

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.S148L
c.443C>T
Surrounding Variants
3 papers
NM_006516.4
p.P149A
c.445C>G
1 paper
NM_006516.4
p.E146del1
c.436_437delTTC
2 papers
NM_006516.4
p.P149L
c.446C>T
2 papers
NM_006516.4
p.E146D
c.438A>T
3 papers
NM_006516.4
p.E146D
c.438A>C
1 paper
NM_006516.4
p.G145_P149insFs
c.435_447dup13
1 paper
NM_006516.4
p.E146*
c.436G>T
4 papers
NM_006516.4
p.E146Q
c.436G>C
22 papers
NM_006516.4
p.E146K
c.436G>A
1 paper
NM_006516.4
p.A151T
c.451G>A
1 paper
NM_006516.4
p.G145R
c.433G>C
2 papers
NM_006516.4
p.V144delFs
c.431_432delCA
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."