Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.R92R

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.R92R
c.274C>A
Surrounding Variants
12 papers
NM_006516.4
p.R92W
c.274C>T
1 paper
NM_006516.4
p.R92delFs
c.274delG
3 papers
NM_006516.4
p.G91A
c.272G>C
24 papers
NM_006516.4
p.G91D
c.272G>A
4 papers
NM_006516.4
p.R92Splc
c.275+1G>A
1 paper
NM_006516.4
p.R92Splc
c.275+2T>G
1 paper
NM_006516.4
p.F90insFs
c.270dupT
1 paper
NM_006516.4
p.F90delFs
c.270delA
1 paper
NM_006516.4
p.R92Splc
c.275+3A>T
1 paper
NM_006516.4
p.F90S
c.269T>C
1 paper
NM_006516.4
p.F90fs
c.268_269fs
1 paper
NM_006516.4
p.L85_R89del5
c.253_266del15
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