Varaico: Literature-Extracted Genetic Variants

Gene:UGP2
Variant:p.E147_H148Splc

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.E147_H148Splc
c.441+32C>T
Surrounding Variants
1 paper
NM_006759.4
p.E147_H148Splc
c.441+32C>A
1 paper
NM_006759.4
p.E147_H148Splc
c.441+31A>G
1 paper
NM_006759.4
p.E147_H148Splc
c.441+33T>G
1 paper
NM_006759.4
p.E147_H148Splc
c.441+36A>G
1 paper
NM_006759.4
p.E147_H148Splc
c.441+26G>T
1 paper
NM_006759.4
p.E147_H148Splc
c.441+21C>T
1 paper
NM_006759.4
p.E147_H148Splc
c.441+43T>C
1 paper
NM_006759.4
p.E147_H148Splc
c.441+19T>C
1 paper
NM_006759.4
p.E147_H148Splc
c.441+17C>T
1 paper
NM_006759.4
p.E147_H148Splc
c.441+52T>A
1 paper
NM_006759.4
p.E147_H148Splc
c.441+10A>G
1 paper
NM_006759.4
p.E147E
c.441A>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."