Varaico: Literature-Extracted Genetic Variants

Gene:UGP2
Variant:p.R192Splc

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.R192Splc
c.576-28T>C
Surrounding Variants
1 paper
NM_006759.4
p.R192Splc
c.576-20G>T
1 paper
NM_006759.4
p.R192Splc
c.576-37G>A
1 paper
NM_006759.4
p.R192Splc
c.576-38A>G
1 paper
NM_006759.4
p.R192Splc
c.576-42C>T
1 paper
NM_006759.4
p.R192Splc
c.576-47A>T
1 paper
NM_006759.4
p.R192Splc
c.576-5T>A
1 paper
NM_006759.4
p.R192Splc
c.576-4A>T
1 paper
NM_006759.4
p.Y193C
c.578A>G
1 paper
NM_006759.4
p.P194Q
c.581C>A
1 paper
NM_006759.4
p.P194R
c.581C>G
1 paper
NM_006759.4
p.P194L
c.581C>T
1 paper
NM_006759.4
p.P194P
c.582G>A
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