Varaico: Literature-Extracted Genetic Variants

Gene:UGP2
Variant:p.G116D

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.G116D
c.347G>A
Surrounding Variants
2 papers
NM_006759.4
p.G115D
c.344G>A
1 paper
NM_006759.4
p.N114S
c.341A>G
1 paper
NM_006759.4
p.G118G
c.354A>G
1 paper
NM_006759.4
p.S120S
c.360C>T
1 paper
NM_006759.4
p.V109V
c.327G>A
1 paper
NM_006759.4
p.V109A
c.326T>C
1 paper
NM_006759.4
p.K124E
c.370A>G
1 paper
NM_006759.4
p.L108L
c.322C>T
1 paper
NM_006759.4
p.K107N
c.321A>C
1 paper
NM_006759.4
p.K107K
c.321A>G
1 paper
NM_006759.4
p.K107N
c.321A>T
1 paper
NM_006759.4
p.P126A
c.376C>G
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