Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.A197T

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.A197T
c.589G>A
Surrounding Variants
2 papers
NM_006516.4
p.A197P
c.589G>C
1 paper
NM_006516.4
p.P196P
c.588G>C
3 papers
NM_006516.4
p.P196P
c.588G>A
2 papers
NM_006516.4
p.P196L
c.587C>T
1 paper
NM_006516.4
p.P196R
c.587C>G
3 papers
NM_006516.4
p.P196A
c.586C>G
1 paper
NM_006516.4
p.L198insFs
c.592_593insG
1 paper
NM_006516.4
p.L198insFs
c.592_593insA
1 paper
NM_006516.4
p.I195N
c.584T>A
1 paper
NM_006516.4
p.L198L
c.594G>A
1 paper
NM_006516.4
p.I193delFs
c.579delG
2 papers
NM_006516.4
p.Q200*
c.598C>T
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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."