Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.P205_L214delFs

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.P205_L214delFs
c.615_640del26
Surrounding Variants
1 paper
NM_006516.4
p.L214P
c.641T>C
1 paper
NM_006516.4
p.F213delFs
c.639delG
1 paper
NM_006516.4
p.R212_F213delFs
c.636_639del4
4 papers
NM_006516.4
p.L215F
c.643C>T
1 paper
NM_006516.4
p.F213insFs
c.638_639insA
1 paper
NM_006516.4
p.R212R
c.636C>T
3 papers
NM_006516.4
p.I216T
c.647T>C
8 papers
NM_006516.4
p.R212H
c.635G>A
13 papers
NM_006516.4
p.R212C
c.634C>T
1 paper
NM_006516.4
p.N217S
c.650A>G
1 paper
NM_006516.4
p.N217insFs
c.650_651insC
3 papers
NM_006516.4
p.P211S
c.631C>T
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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."