Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.E247D

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
5 papers
NM_006516.4
p.E247D
c.741G>T
Surrounding Variants
1 paper
NM_006516.4
p.E247_S248insFs
c.741_742insC
5 papers
NM_006516.4
p.E247D
c.741G>C
2 papers
NM_006516.4
p.E247E
c.741G>A
1 paper
NM_006516.4
p.E246_E247delFs
c.737_740del4
1 paper
NM_006516.4
p.E247G
c.740A>G
1 paper
NM_006516.4
p.E247A
c.740A>C
2 papers
NM_006516.4
p.E247_S248insFs
c.741_742insG
3 papers
NM_006516.4
p.S248insFs
c.742_743insC
1 paper
NM_006516.4
p.E247insFs
c.740_741insC
1 paper
NM_006516.4
p.E246_E247delFs
c.736_739del4
1 paper
NM_006516.4
p.E247*
c.739G>T
4 papers
NM_006516.4
p.E247K
c.739G>A
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."