Varaico: Literature-Extracted Genetic Variants

Gene:UGP2
Variant:p.Q176R

UGP2

63 papers

RefSeq Summary

The enzyme encoded by this gene is an important intermediary in mammalian carbohydrate interconversions. It transfers a glucose moiety from glucose-1-phosphate to MgUTP and forms UDP-glucose and MgPPi...

Pfam Domains

UDPGPaa 55–473UCSCUTP--glucose-1-phosphate uridylyltransferase

Gene Aliases

HGNC Name

UDP-glucose pyrophosphorylase 2

HGNC Previous Symbol

UGP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006759.4
p.Q176R
c.527A>G
Surrounding Variants
1 paper
NM_006759.4
p.I174T
c.521T>C
1 paper
NM_006759.4
p.I174L
c.520A>C
1 paper
NM_006759.4
p.I174L
c.520A>T
1 paper
NM_006759.4
p.N179H
c.535A>C
1 paper
NM_006759.4
p.N179S
c.536A>G
1 paper
NM_006759.4
p.H180H
c.540T>C
1 paper
NM_006759.4
p.T171I
c.512C>T
1 paper
NM_006759.4
p.R182C
c.544C>T
1 paper
NM_006759.4
p.R182H
c.545G>A
1 paper
NM_006759.4
p.E169D
c.507A>C
1 paper
NM_006759.4
p.E169D
c.507A>T
1 paper
NM_006759.4
p.D168D
c.504T>C
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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."