Varaico: Literature-Extracted Genetic Variants

Gene:UGP2
Variant:p.Y153C

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
2 papers
NM_006759.4
p.Y153C
c.458A>G
Surrounding Variants
1 paper
NM_006759.4
p.Y153Y
c.459C>T
1 paper
NM_006759.4
p.T152P
c.454A>C
1 paper
NM_006759.4
p.N154N
c.462T>C
1 paper
NM_006759.4
p.L149delFs
c.446_447delTG
1 paper
NM_006759.4
p.P158S
c.472C>T
1 paper
NM_006759.4
p.P158L
c.473C>T
1 paper
NM_006759.4
p.E147_H148Splc
c.442-4C>A
1 paper
NM_006759.4
p.E147_H148Splc
c.442-10T>C
1 paper
NM_006759.4
p.N163D
c.487A>G
1 paper
NM_006759.4
p.E147_H148Splc
c.442-23C>G
1 paper
NM_006759.4
p.E147_H148Splc
c.442-24T>C
1 paper
NM_006759.4
p.T167T
c.501G>A
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