Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.L124R

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
3 papers
NM_006516.4
p.L124R
c.371T>G
Surrounding Variants
1 paper
NM_006516.4
p.L124fs
c.370_371fs
1 paper
NM_006516.4
p.I123insFs
c.368_369ins23
1 paper
NM_006516.4
p.I123_L124insFs
c.369_370ins23
1 paper
NM_006516.4
p.G125A
c.374G>C
1 paper
NM_006516.4
p.G125delFs
c.374delC
64 papers
NM_006516.4
p.R126C
c.376C>T
1 paper
NM_006516.4
p.L122P
c.365T>C
1 paper
NM_006516.4
p.L122Q
c.365T>A
22 papers
NM_006516.4
p.R126L
c.377G>T
43 papers
NM_006516.4
p.R126H
c.377G>A
2 papers
NM_006516.4
p.L122L
c.364C>T
1 paper
NM_006516.4
p.L124_R126del3
c.370_377del9
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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."