Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.V307V

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.V307V
c.921G>A
Surrounding Variants
1 paper
NM_006516.4
p.Y308H
c.922T>C
1 paper
NM_006516.4
p.V307A
c.920T>C
1 paper
NM_006516.4
p.V307L
c.919G>T
1 paper
NM_006516.4
p.Y308C
c.923A>G
1 paper
NM_006516.4
p.Y308S
c.923A>C
1 paper
NM_006516.4
p.Y308insFs
c.923dupA
1 paper
NM_006516.4
p.P306S
c.916C>T
1 paper
NM_006516.4
p.Q305H
c.915G>C
2 papers
NM_006516.4
p.T310S
c.928A>T
2 papers
NM_006516.4
p.T310A
c.928A>G
1 paper
NM_006516.4
p.Q305R
c.914A>G
31 papers
NM_006516.4
p.T310I
c.929C>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."