Varaico: Literature-Extracted Genetic Variants

Gene:UGP2
Variant:p.D7Splc

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.D7Splc
c.19+26C>G
Surrounding Variants
1 paper
NM_006759.4
p.D7Splc
c.19+22A>G
1 paper
NM_006759.4
p.D7Splc
c.19+20A>C
1 paper
NM_006759.4
p.D7Splc
c.19+33C>G
1 paper
NM_006759.4
p.D7Splc
c.19+19T>A
1 paper
NM_006759.4
p.D7Splc
c.19+18T>G
1 paper
NM_006759.4
p.D7Splc
c.19+39G>C
1 paper
NM_006759.4
p.D7Splc
c.19+12T>G
1 paper
NM_006759.4
p.D7Splc
c.19+11C>T
1 paper
NM_006759.4
p.D7Splc
c.19+42A>G
1 paper
NM_006759.4
p.D7Splc
c.19+42A>T
1 paper
NM_006759.4
p.D7Splc
c.19+10G>A
1 paper
NM_006759.4
p.D7Splc
c.19+45T>G
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