Varaico: Literature-Extracted Genetic Variants

Gene:UGP2
Variant:p.K52Q

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.K52Q
c.154A>C
Surrounding Variants
1 paper
NM_006759.4
p.K52R
c.155A>G
1 paper
NM_006759.4
p.K52K
c.156A>G
1 paper
NM_006759.4
p.L55V
c.163C>G
1 paper
NM_006759.4
p.E49_H50Splc
c.148-3C>T
1 paper
NM_006759.4
p.L55L
c.165G>A
1 paper
NM_006759.4
p.G57R
c.169G>A
1 paper
NM_006759.4
p.G57R
c.169G>C
1 paper
NM_006759.4
p.E49_H50Splc
c.148-10A>G
1 paper
NM_006759.4
p.E49_H50Splc
c.148-15C>G
1 paper
NM_006759.4
p.R59W
c.175C>T
1 paper
NM_006759.4
p.R59Q
c.176G>A
1 paper
NM_006759.4
p.E49_H50Splc
c.148-18T>C
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