Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.I311fs

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.I311fs
c.931_932fs
Surrounding Variants
1 paper
NM_006516.4
p.G312C
c.934G>T
1 paper
NM_006516.4
p.G312R
c.934G>C
1 paper
NM_006516.4
p.G312A
c.935G>C
1 paper
NM_006516.4
p.G312D
c.935G>A
31 papers
NM_006516.4
p.T310I
c.929C>T
2 papers
NM_006516.4
p.T310S
c.929C>G
1 paper
NM_006516.4
p.T310insFs
c.929_930ins7
3 papers
NM_006516.4
p.T310N
c.929C>A
2 papers
NM_006516.4
p.S313fs
c.937_938fs
3 papers
NM_006516.4
p.S313F
c.938C>T
1 paper
NM_006516.4
p.S313C
c.938C>G
3 papers
NM_006516.4
p.S313Y
c.938C>A
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