Varaico: Literature-Extracted Genetic Variants

Gene:UGP2
Variant:p.G241V

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.G241V
c.722G>T
Surrounding Variants
1 paper
NM_006759.4
p.G241E
c.722G>A
1 paper
NM_006759.4
p.E242ins1
c.724_725insGAT
1 paper
NM_006759.4
p.G243S
c.727G>A
1 paper
NM_006759.4
p.F239F
c.717T>C
1 paper
NM_006759.4
p.D237D
c.711T>C
1 paper
NM_006759.4
p.E245E
c.735G>A
1 paper
NM_006759.4
p.L236F
c.706C>T
1 paper
NM_006759.4
p.S233S
c.699T>A
1 paper
NM_006759.4
p.V249V
c.747G>A
1 paper
NM_006759.4
p.N232S
c.695A>G
1 paper
NM_006759.4
p.S250F
c.749C>T
1 paper
NM_006759.4
p.I252V
c.754A>G
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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."