Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.F326C

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.F326C
c.977T>G
Surrounding Variants
1 paper
NM_006516.4
p.V327M
c.979G>A
1 paper
NM_006516.4
p.V327fs
c.979_980fs
2 papers
NM_006516.4
p.V327fs
c.979_980fs
2 papers
NM_006516.4
p.V328L
c.982G>T
2 papers
NM_006516.4
p.V328L
c.982G>C
4 papers
NM_006516.4
p.V327delFs
c.980_981delCA
18 papers
NM_006516.4
p.E329Q
c.985G>C
1 paper
NM_006516.4
p.E329K
c.985G>A
1 paper
NM_006516.4
p.E329A
c.986A>C
1 paper
NM_006516.4
p.E329D
c.987G>T
1 paper
NM_006516.4
p.E329D
c.987G>C
26 papers
NM_006516.4
p.R330*
c.988C>T
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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."