Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.R333W

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
64 papers
NM_006516.4
p.R333W
c.997C>T
Surrounding Variants
1 paper
NM_006516.4
p.R333G
c.997C>G
1 paper
NM_006516.4
p.R333_R334insG
c.997_1001ins3
4 papers
NM_006516.4
p.R333L
c.998G>T
14 papers
NM_006516.4
p.R333Q
c.998G>A
1 paper
NM_006516.4
p.G332A
c.995G>C
2 papers
NM_006516.4
p.G332D
c.995G>A
2 papers
NM_006516.4
p.R330_A331del0
c.988_993del6
1 paper
NM_006516.4
p.R334W
c.1000C>T
2 papers
NM_006516.4
p.R334Q
c.1001G>A
1 paper
NM_006516.4
p.R334R
c.1002G>A
1 paper
NM_006516.4
p.V327_A331insFs
c.979_991dup13
1 paper
NM_006516.4
p.A331fs
c.991_992fs
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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."