Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.T47R

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.T47R
c.140C>G
Surrounding Variants
1 paper
NM_006516.4
p.Q46_T47insFs
c.138_141dup4
1 paper
NM_006516.4
p.Q46H
c.138G>T
1 paper
NM_006516.4
p.Q46H
c.138G>C
6 papers
NM_006516.4
p.W48*
c.143G>A
1 paper
NM_006516.4
p.N45insFs
c.135dupC
1 paper
NM_006516.4
p.W48C
c.144G>C
6 papers
NM_006516.4
p.W48*
c.144G>A
5 papers
NM_006516.4
p.Q46*
c.136C>T
1 paper
NM_006516.4
p.Q46_T47ins7
c.136_140ins21
2 papers
NM_006516.4
p.Y44_N45del0
c.130_135del6
10 papers
NM_006516.4
p.N45T
c.134A>C
1 paper
NM_006516.4
p.N45fs
c.133_134fs
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