Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.A275T

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
23 papers
NM_006516.4
p.A275T
c.823G>A
Surrounding Variants
1 paper
NM_006516.4
p.I274_A275insFs
c.822_823insC
1 paper
NM_006516.4
p.A275P
c.823G>C
1 paper
NM_006516.4
p.V276fs
c.826_827fs
1 paper
NM_006516.4
p.L273H
c.818T>A
1 paper
NM_006516.4
p.V277fs
c.829_830fs
3 papers
NM_006516.4
p.I272V
c.814A>G
1 paper
NM_006516.4
p.P271delFs
c.811_812delGG
2 papers
NM_006516.4
p.L278P
c.833T>C
6 papers
NM_006516.4
p.Q279*
c.835C>T
1 paper
NM_006516.4
p.P271A
c.811C>G
1 paper
NM_006516.4
p.Q270R
c.809A>G
5 papers
NM_006516.4
p.Q270*
c.808C>T
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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."