Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.G145_P149insFs

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.G145_P149insFs
c.435_447dup13
Surrounding Variants
2 papers
NM_006516.4
p.P149L
c.446C>T
1 paper
NM_006516.4
p.A151T
c.451G>A
3 papers
NM_006516.4
p.P149A
c.445C>G
2 papers
NM_006516.4
p.S148L
c.443C>T
1 paper
NM_006516.4
p.L152_R153insFs
c.456_457insG
1 paper
NM_006516.4
p.E146del1
c.436_437delTTC
33 papers
NM_006516.4
p.R153C
c.457C>T
2 papers
NM_006516.4
p.R153G
c.457C>G
11 papers
NM_006516.4
p.R153L
c.458G>T
12 papers
NM_006516.4
p.R153H
c.458G>A
2 papers
NM_006516.4
p.E146D
c.438A>T
3 papers
NM_006516.4
p.E146D
c.438A>C
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