Varaico: Literature-Extracted Genetic Variants

Gene:UGP2
Variant:p.D99G

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.D99G
c.296A>G
Surrounding Variants
1 paper
NM_006759.4
p.D99H
c.295G>C
1 paper
NM_006759.4
p.I101V
c.301A>G
1 paper
NM_006759.4
p.L97S
c.290T>C
1 paper
NM_006759.4
p.G96G
c.288C>G
1 paper
NM_006759.4
p.G96V
c.287G>T
1 paper
NM_006759.4
p.R95R
c.285G>A
1 paper
NM_006759.4
p.R95delFs
c.284delG
1 paper
NM_006759.4
p.S103S
c.309C>T
1 paper
NM_006759.4
p.V104M
c.310G>A
1 paper
NM_006759.4
p.A94V
c.281C>T
1 paper
NM_006759.4
p.A94T
c.280G>A
1 paper
NM_006759.4
p.V104V
c.312G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."