Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.M96L

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.M96L
c.286A>C
Surrounding Variants
2 papers
NM_006516.4
p.M96fs
c.286_287fs
1 paper
NM_006516.4
p.M96L
c.286A>T
6 papers
NM_006516.4
p.M96V
c.286A>G
1 paper
NM_006516.4
p.M96T
c.287T>C
1 paper
NM_006516.4
p.M96K
c.287T>A
2 papers
NM_006516.4
p.S95L
c.284C>T
1 paper
NM_006516.4
p.S95delins
c.283_284delinsAT
1 paper
NM_006516.4
p.S95delFs
c.283delA
2 papers
NM_006516.4
p.S95T
c.283T>A
1 paper
NM_006516.4
p.L97fs
c.289_290fs
2 papers
NM_006516.4
p.N94D
c.280A>G
1 paper
NM_006516.4
p.N94H
c.280A>C
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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."