Varaico: Literature-Extracted Genetic Variants

Gene:UGP2
Variant:p.D140N

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
2 papers
NM_006759.4
p.D140N
c.418G>A
Surrounding Variants
1 paper
NM_006759.4
p.D140G
c.419A>G
1 paper
NM_006759.4
p.L141V
c.421C>G
1 paper
NM_006759.4
p.V143L
c.427G>C
1 paper
NM_006759.4
p.Q144K
c.430C>A
1 paper
NM_006759.4
p.Q144Q
c.432G>A
1 paper
NM_006759.4
p.N134N
c.402T>C
1 paper
NM_006759.4
p.R133R
c.399G>A
1 paper
NM_006759.4
p.E147K
c.439G>A
1 paper
NM_006759.4
p.E147E
c.441A>G
1 paper
NM_006759.4
p.G131S
c.391G>A
1 paper
NM_006759.4
p.E147_H148Splc
c.441+10A>G
1 paper
NM_006759.4
p.L129L
c.385C>T
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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."