Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.E54insFs

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.E54insFs
c.161dupA
Surrounding Variants
1 paper
NM_006516.4
p.E54delins
c.161_162delinsAT
1 paper
NM_006516.4
p.E54V
c.161A>T
1 paper
NM_006516.4
p.S55R
c.163A>C
3 papers
NM_006516.4
p.E54*
c.160G>T
1 paper
NM_006516.4
p.S55N
c.164G>A
1 paper
NM_006516.4
p.S55R
c.165C>G
1 paper
NM_006516.4
p.S55fs
c.163_164fs
1 paper
NM_006516.4
p.S55R
c.165C>A
1 paper
NM_006516.4
p.S55Fs
c.164_165delinsTTCAFs
1 paper
NM_006516.4
p.G53V
c.158G>T
1 paper
NM_006516.4
p.Y52delFs
c.155_156delAT
1 paper
NM_006516.4
p.Y52_G53insT
c.154_158ins3
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