Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.R126C

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
64 papers
NM_006516.4
p.R126C
c.376C>T
Surrounding Variants
22 papers
NM_006516.4
p.R126L
c.377G>T
43 papers
NM_006516.4
p.R126H
c.377G>A
1 paper
NM_006516.4
p.G125delFs
c.374delC
1 paper
NM_006516.4
p.G125A
c.374G>C
1 paper
NM_006516.4
p.L124_R126del3
c.370_377del9
1 paper
NM_006516.4
p.I123insFs
c.368_369ins23
4 papers
NM_006516.4
p.F127S
c.380T>C
3 papers
NM_006516.4
p.L124R
c.371T>G
1 paper
NM_006516.4
p.L124fs
c.370_371fs
1 paper
NM_006516.4
p.I128fs
c.382_383fs
1 paper
NM_006516.4
p.I128F
c.382A>T
3 papers
NM_006516.4
p.L124_F127insFs
c.371_381dup11
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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."