Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.N219fs

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.N219fs
c.655_656fs
Surrounding Variants
3 papers
NM_006516.4
p.R218insFs
c.654dupC
12 papers
NM_006516.4
p.R218H
c.653G>A
1 paper
NM_006516.4
p.N219N
c.657C>T
1 paper
NM_006516.4
p.N219fs
c.655_656fs
2 papers
NM_006516.4
p.N219delFs
c.656delT
4 papers
NM_006516.4
p.R218C
c.652C>T
3 papers
NM_006516.4
p.R218S
c.652C>A
1 paper
NM_006516.4
p.N217K
c.651C>G
1 paper
NM_006516.4
p.N217fs
c.649_650fs
1 paper
NM_006516.4
p.N217K
c.651C>A
1 paper
NM_006516.4
p.N217delFs
c.650delT
1 paper
NM_006516.4
p.E220A
c.659A>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."