Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.G343C

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.G343C
c.1027G>T
Surrounding Variants
2 papers
NM_006516.4
p.G343insFs
c.1028dupG
1 paper
NM_006516.4
p.G340_L341del2
c.1018_1022del6
2 papers
NM_006516.4
p.A342_G343insA
c.1024_1028ins3
2 papers
NM_006516.4
p.A342T
c.1024G>A
1 paper
NM_006516.4
p.M344insFs
c.1030dupA
4 papers
NM_006516.4
p.M344T
c.1031T>C
1 paper
NM_006516.4
p.H337_G340del4
c.1009_1019del12
1 paper
NM_006516.4
p.M344fs
c.1030_1031fs
1 paper
NM_006516.4
p.A345V
c.1034C>T
1 paper
NM_006516.4
p.G340fs
c.1018_1019fs
3 papers
NM_006516.4
p.L341_A345del0
c.1022_1033del12
1 paper
NM_006516.4
p.A345_G346ins4
c.1035_1036ins12
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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."