Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.S80delFs

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
2 papers
NM_006516.4
p.S80delFs
c.240delG
Surrounding Variants
1 paper
NM_006516.4
p.F81C
c.242T>G
1 paper
NM_006516.4
p.M77_S80delFs
c.229_239del11
1 paper
NM_006516.4
p.F81F
c.243C>T
2 papers
NM_006516.4
p.S80C
c.239C>G
1 paper
NM_006516.4
p.S80insFs
c.238dupT
1 paper
NM_006516.4
p.S80T
c.238T>A
2 papers
NM_006516.4
p.G79V
c.236G>T
2 papers
NM_006516.4
p.G79D
c.236G>A
2 papers
NM_006516.4
p.G79C
c.235G>T
1 paper
NM_006516.4
p.G79S
c.235G>A
1 paper
NM_006516.4
p.S82delFs
c.245_246delAG
1 paper
NM_006516.4
p.M77fs
c.229_230fs
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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."