Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.E246_E247delFs

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.E246_E247delFs
c.737_741del5
Surrounding Variants
2 papers
NM_006516.4
p.S248delFs
c.742_743delCT
2 papers
NM_006516.4
p.E247_S248insFs
c.741_742insG
3 papers
NM_006516.4
p.S248insFs
c.742_743insC
5 papers
NM_006516.4
p.E247D
c.741G>T
1 paper
NM_006516.4
p.E247_S248insFs
c.741_742insC
5 papers
NM_006516.4
p.E247D
c.741G>C
2 papers
NM_006516.4
p.E247E
c.741G>A
1 paper
NM_006516.4
p.R249fs
c.745_746fs
1 paper
NM_006516.4
p.E246_E247delFs
c.737_740del4
1 paper
NM_006516.4
p.R249W
c.745C>T
5 papers
NM_006516.4
p.R249insFs
c.745_746insC
1 paper
NM_006516.4
p.R249ins3
c.746_747ins9
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