Varaico: Literature-Extracted Genetic Variants

Gene:UGP2
Variant:p.E49_H50Splc

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.E49_H50Splc
c.147+6G>A
Surrounding Variants
1 paper
NM_006759.4
p.E49_H50Splc
c.147+9G>A
1 paper
NM_006759.4
p.E49V
c.146A>T
1 paper
NM_006759.4
p.E49_H50Splc
c.147+13C>G
1 paper
NM_006759.4
p.E49_H50Splc
c.147+13C>T
1 paper
NM_006759.4
p.E49K
c.145G>A
1 paper
NM_006759.4
p.E49_H50Splc
c.147+15A>G
1 paper
NM_006759.4
p.E47D
c.141A>C
1 paper
NM_006759.4
p.E47D
c.141A>T
1 paper
NM_006759.4
p.H46R
c.137A>G
1 paper
NM_006759.4
p.E49_H50Splc
c.147+22T>A
1 paper
NM_006759.4
p.E49_H50Splc
c.147+22T>C
1 paper
NM_006759.4
p.H46D
c.136C>G
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