Varaico: Literature-Extracted Genetic Variants

Gene:UGP2
Variant:p.R25L

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.R25L
c.74G>T
Surrounding Variants
1 paper
NM_006759.4
p.R25Q
c.74G>A
1 paper
NM_006759.4
p.R25R
c.75G>A
1 paper
NM_006759.4
p.Q26Q
c.78A>G
1 paper
NM_006759.4
p.L28L
c.82C>T
1 paper
NM_006759.4
p.L28Q
c.83T>A
1 paper
NM_006759.4
p.L28L
c.84A>G
1 paper
NM_006759.4
p.F20L
c.58T>C
1 paper
NM_006759.4
p.Q19R
c.56A>G
1 paper
NM_006759.4
p.S18C
c.53C>G
1 paper
NM_006759.4
p.S18F
c.53C>T
1 paper
NM_006759.4
p.V32V
c.96G>C
1 paper
NM_006759.4
p.V32V
c.96G>T
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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."