Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.K255K

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.K255K
c.765G>A
Surrounding Variants
2 papers
NM_006516.4
p.K256*
c.766A>T
3 papers
NM_006516.4
p.K256E
c.766A>G
2 papers
NM_006516.4
p.K255R
c.764A>G
1 paper
NM_006516.4
p.K255T
c.764A>C
1 paper
NM_006516.4
p.E254_K255delFs
c.760_763del4
1 paper
NM_006516.4
p.K256M
c.767A>T
1 paper
NM_006516.4
p.K256R
c.767A>G
1 paper
NM_006516.4
p.K256delins
c.766_767delinsGT
1 paper
NM_006516.4
p.K256fs
c.766_767fs
3 papers
NM_006516.4
p.E254delFs
c.761delT
1 paper
NM_006516.4
p.E254A
c.761A>C
1 paper
NM_006516.4
p.K245_E254insFs
c.735_760dup26
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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."