Varaico: Literature-Extracted Genetic Variants

Gene:UGP2
Variant:p.I86I

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.I86I
c.258T>A
Surrounding Variants
1 paper
NM_006759.4
p.I86V
c.256A>G
1 paper
NM_006759.4
p.P88A
c.262C>G
1 paper
NM_006759.4
p.P88P
c.264C>G
1 paper
NM_006759.4
p.P88P
c.264C>T
1 paper
NM_006759.4
p.Y89C
c.266A>G
1 paper
NM_006759.4
p.Y89F
c.266A>T
1 paper
NM_006759.4
p.S85_I86Splc
c.256-6T>C
1 paper
NM_006759.4
p.E90G
c.269A>G
1 paper
NM_006759.4
p.S85_I86Splc
c.256-11T>C
1 paper
NM_006759.4
p.K91R
c.272A>G
1 paper
NM_006759.4
p.K91M
c.272A>T
1 paper
NM_006759.4
p.S85_I86Splc
c.256-13A>T
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