Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.K225R

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.K225R
c.674A>G
Surrounding Variants
1 paper
NM_006516.4
p.K225N
c.675G>T
1 paper
NM_006516.4
p.K225N
c.675G>C
6 papers
NM_006516.4
p.A224V
c.671C>T
2 papers
NM_006516.4
p.A224G
c.671C>G
4 papers
NM_006516.4
p.S226R
c.678T>G
4 papers
NM_006516.4
p.A224T
c.670G>A
3 papers
NM_006516.4
p.V227_L228insG
c.679_683ins3
2 papers
NM_006516.4
p.V227_L228insPPV
c.679_683ins9
4 papers
NM_006516.4
p.V227M
c.679G>A
2 papers
NM_006516.4
p.V227Splc
c.679+1G>T
1 paper
NM_006516.4
p.N222_R223insFs
c.666_667dupCC
8 papers
NM_006516.4
p.R223P
c.668G>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."