Varaico: Literature-Extracted Genetic Variants

Gene:UGP2
Variant:p.N232S

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.N232S
c.695A>G
Surrounding Variants
1 paper
NM_006759.4
p.S233S
c.699T>A
1 paper
NM_006759.4
p.S229N
c.686G>A
1 paper
NM_006759.4
p.L236F
c.706C>T
1 paper
NM_006759.4
p.A228S
c.682G>T
1 paper
NM_006759.4
p.Y227Y
c.681C>T
1 paper
NM_006759.4
p.D237D
c.711T>C
1 paper
NM_006759.4
p.F239F
c.717T>C
1 paper
NM_006759.4
p.H223H
c.669T>C
1 paper
NM_006759.4
p.H223L
c.668A>T
1 paper
NM_006759.4
p.G241E
c.722G>A
1 paper
NM_006759.4
p.G241V
c.722G>T
1 paper
NM_006759.4
p.E242ins1
c.724_725insGAT
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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."