Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.T321A

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.T321A
c.961A>G
Surrounding Variants
1 paper
NM_006516.4
p.T321P
c.961A>C
2 papers
NM_006516.4
p.F320C
c.959T>G
1 paper
NM_006516.4
p.V322I
c.964G>A
1 paper
NM_006516.4
p.V322A
c.965T>C
1 paper
NM_006516.4
p.V322D
c.965T>A
3 papers
NM_006516.4
p.V322V
c.966C>T
1 paper
NM_006516.4
p.A319P
c.955G>C
4 papers
NM_006516.4
p.V323M
c.967G>A
2 papers
NM_006516.4
p.V323fs
c.967_968fs
1 paper
NM_006516.4
p.V322delFs
c.966delG
1 paper
NM_006516.4
p.V323A
c.968T>C
2 papers
NM_006516.4
p.V322_V323delFs
c.966_967delCG
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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."