Varaico: Literature-Extracted Genetic Variants

Gene:UGP2

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
1–12 of 830 variants
5 papers
NM_006759.4
p.M12V
c.34A>G
4 papers
NM_006759.4
p.M1V
c.1A>G
2 papers
NM_006759.4
p.K10insFs
c.28dupA
2 papers
NM_001001521.2
p.M1V
c.1A>G
2 papers
NM_006759.4
p.T41A
c.121A>G
2 papers
NM_006759.4
p.S72F
c.215C>T
2 papers
NM_006759.4
p.S85_I86Splc
c.255+4837C>T
2 papers
NM_006759.4
p.G115D
c.344G>A
2 papers
NM_006759.4
p.D140N
c.418G>A
2 papers
NM_006759.4
p.Y153C
c.458A>G
2 papers
NM_006759.4
p.K285N
c.855A>C
2 papers
NM_006759.4
p.K285N
c.855A>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."