Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.V227Splc

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
2 papers
NM_006516.4
p.V227Splc
c.679+1G>T
Surrounding Variants
1 paper
NM_006516.4
p.V227Splc
c.679+1G>C
3 papers
NM_006516.4
p.V227Splc
c.679+1G>A
1 paper
NM_006516.4
p.V227Splc
c.679+2T>G
3 papers
NM_006516.4
p.V227_L228insG
c.679_683ins3
2 papers
NM_006516.4
p.V227_L228insPPV
c.679_683ins9
4 papers
NM_006516.4
p.V227M
c.679G>A
4 papers
NM_006516.4
p.S226R
c.678T>G
1 paper
NM_006516.4
p.V227Splc
c.679+5G>T
1 paper
NM_006516.4
p.K225N
c.675G>T
1 paper
NM_006516.4
p.K225N
c.675G>C
1 paper
NM_006516.4
p.V227Splc
c.679+7G>T
1 paper
NM_006516.4
p.K225R
c.674A>G
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