Varaico: Literature-Extracted Genetic Variants

Gene:UGP2
Variant:p.A11T

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.A11T
c.31G>A
Surrounding Variants
1 paper
NM_006759.4
p.A11insFs
c.32_33insTC
1 paper
NM_006759.4
p.A11S
c.31G>T
1 paper
NM_006759.4
p.K10N
c.30A>C
1 paper
NM_006759.4
p.K10N
c.30A>T
1 paper
NM_006759.4
p.A11E
c.32C>A
1 paper
NM_006759.4
p.A11G
c.32C>G
1 paper
NM_006759.4
p.K10T
c.29A>C
1 paper
NM_006759.4
p.A11A
c.33A>C
6 papers
NM_006759.4
p.M12V
c.34A>G
NM_001001521.2
p.M1V
c.1A>G
1 paper
NM_006759.4
p.K10*
c.28A>T
1 paper
NM_006759.4
p.S9R
c.27C>A
2 papers
NM_006759.4
p.K10insFs
c.28dupA
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