Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.A171S

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.A171S
c.511G>T
Surrounding Variants
1 paper
NM_006516.4
p.A171T
c.511G>A
2 papers
NM_006516.4
p.L169_I170insFs
c.507_508dupCA
1 paper
NM_006516.4
p.I170N
c.509T>A
1 paper
NM_006516.4
p.A171fs
c.511_512fs
2 papers
NM_006516.4
p.Q172*
c.514C>T
1 paper
NM_006516.4
p.I170fs
c.508_509fs
1 paper
NM_006516.4
p.I170L
c.508A>C
1 paper
NM_006516.4
p.L169insFs
c.506_507dupTC
8 papers
NM_006516.4
p.L169del1
c.505_506delGAG
1 paper
NM_006516.4
p.L169fs
c.505_506fs
2 papers
NM_006516.4
p.Q172insFs
c.514dupC
5 papers
NM_006516.4
p.L169P
c.506T>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."