Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.F104insFs

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.F104insFs
c.310dupT
Surrounding Variants
2 papers
NM_006516.4
p.F104L
c.312C>G
1 paper
NM_006516.4
p.F104L
c.312C>A
1 paper
NM_006516.4
p.V105M
c.313G>A
2 papers
NM_006516.4
p.F104L
c.310T>C
2 papers
NM_006516.4
p.F104I
c.310T>A
1 paper
NM_006516.4
p.A103A
c.309C>A
1 paper
NM_006516.4
p.L102_A103delFs
c.305_308del4
1 paper
NM_006516.4
p.V105delFs
c.315delC
1 paper
NM_006516.4
p.L102fs
c.304_305fs
1 paper
NM_006516.4
p.L102delFs
c.305delA
1 paper
NM_006516.4
p.S106fs
c.316_317fs
1 paper
NM_006516.4
p.A107T
c.319G>A
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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."