Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.C207S

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.C207S
c.620G>C
Surrounding Variants
1 paper
NM_006516.4
p.C207insFs
c.620_621insT
1 paper
NM_006516.4
p.C207Y
c.620G>A
1 paper
NM_006516.4
p.C207G
c.619T>G
1 paper
NM_006516.4
p.C207S
c.619T>A
1 paper
NM_006516.4
p.C207fs
c.619_620fs
1 paper
NM_006516.4
p.F206Fs
c.618delinsTTFs
1 paper
NM_006516.4
p.P208A
c.622C>G
1 paper
NM_006516.4
p.F206fs
c.616_617fs
1 paper
NM_006516.4
p.C207_P208Fs
c.621_624delinsGAAFs
2 papers
NM_006516.4
p.E209*
c.625G>T
1 paper
NM_006516.4
p.E209Q
c.625G>C
2 papers
NM_006516.4
p.E209K
c.625G>A
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