Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.A70G

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.A70G
c.209C>G
Surrounding Variants
1 paper
NM_006516.4
p.A70D
c.209C>A
1 paper
NM_006516.4
p.A70A
c.210C>G
1 paper
NM_006516.4
p.V69fs
c.205_206fs
1 paper
NM_006516.4
p.V69V
c.207G>A
1 paper
NM_006516.4
p.I71V
c.211A>G
3 papers
NM_006516.4
p.V69M
c.205G>A
1 paper
NM_006516.4
p.I71delFs
c.213delG
1 paper
NM_006516.4
p.S68_V69insFs
c.204_205ins4
3 papers
NM_006516.4
p.F72C
c.215T>G
1 paper
NM_006516.4
p.S68L
c.203C>T
1 paper
NM_006516.4
p.L67insFs
c.199dupC
1 paper
NM_006516.4
p.L67P
c.200T>C
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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."