Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.K38T

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.K38T
c.113A>C
Surrounding Variants
1 paper
NM_006516.4
p.K38delFs
c.113delT
1 paper
NM_006516.4
p.Q37H
c.111G>C
1 paper
NM_006516.4
p.Q37Q
c.111G>A
3 papers
NM_006516.4
p.Q37insFs
c.109dupC
2 papers
NM_006516.4
p.Q37fs
c.109_110fs
3 papers
NM_006516.4
p.Q37*
c.109C>T
1 paper
NM_006516.4
p.K38_V39Splc
c.114+5G>A
2 papers
NM_006516.4
p.P36L
c.107C>T
4 papers
NM_006516.4
p.P36R
c.107C>G
1 paper
NM_006516.4
p.P36H
c.107C>A
1 paper
NM_006516.4
p.P36T
c.106C>A
1 paper
NM_006516.4
p.P36fs
c.106_107fs
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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."