Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.L64fs

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.L64fs
c.190_191fs
Surrounding Variants
2 papers
NM_006516.4
p.L64F
c.190C>T
1 paper
NM_006516.4
p.L64insFs
c.190_191ins23
1 paper
NM_006516.4
p.L64P
c.191T>C
1 paper
NM_006516.4
p.T63_L64insFs
c.189_190ins23
1 paper
NM_006516.4
p.T63_L64insFs
c.189_190ins22
1 paper
NM_006516.4
p.T63_L64insFs
c.189_190ins23
3 papers
NM_006516.4
p.W65R
c.193T>C
3 papers
NM_006516.4
p.W65R
c.193T>A
1 paper
NM_006516.4
p.W65*
c.194G>A
1 paper
NM_006516.4
p.T62fs
c.184_185fs
1 paper
NM_006516.4
p.W65C
c.195G>T
1 paper
NM_006516.4
p.W65C
c.195G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."