Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.Q305*

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.Q305*
c.913C>T
Surrounding Variants
1 paper
NM_006516.4
p.Q304delFs
c.912delC
2 papers
NM_006516.4
p.Q304insFs
c.911_912insAC
1 paper
NM_006516.4
p.Q305R
c.914A>G
1 paper
NM_006516.4
p.Q305H
c.915G>C
1 paper
NM_006516.4
p.Q304R
c.911A>G
1 paper
NM_006516.4
p.Q304fs
c.910_911fs
1 paper
NM_006516.4
p.P306S
c.916C>T
1 paper
NM_006516.4
p.V303insFs
c.908dupT
3 papers
NM_006516.4
p.V303fs
c.907_908fs
3 papers
NM_006516.4
p.V303insFs
c.907dupG
5 papers
NM_006516.4
p.V303delFs
c.907delC
2 papers
NM_006516.4
p.V303L
c.907G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."