Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.H50H

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.H50H
c.150C>T
Surrounding Variants
1 paper
NM_006516.4
p.H50Q
c.150C>G
1 paper
NM_006516.4
p.H50Q
c.150C>A
1 paper
NM_006516.4
p.R51C
c.151C>T
1 paper
NM_006516.4
p.H50insFs
c.148dupC
4 papers
NM_006516.4
p.R51H
c.152G>A
1 paper
NM_006516.4
p.H50D
c.148C>G
1 paper
NM_006516.4
p.Y52_G53insT
c.154_158ins3
1 paper
NM_006516.4
p.W48C
c.144G>C
6 papers
NM_006516.4
p.W48*
c.144G>A
6 papers
NM_006516.4
p.W48*
c.143G>A
1 paper
NM_006516.4
p.Y52delFs
c.155_156delAT
1 paper
NM_006516.4
p.Q46_T47insFs
c.138_141dup4
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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."