Varaico: Literature-Extracted Genetic Variants

Gene:UGP2
Variant:p.M1R

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.M1R
c.2T>G
Surrounding Variants
4 papers
NM_006759.4
p.M1V
c.1A>G
1 paper
NM_006759.4
p.S2S
c.6G>A
1 paper
NM_006759.4
p.R3G
c.7A>G
1 paper
NM_006759.4
p.R3T
c.8G>C
1 paper
NM_006759.4
p.R3R
c.9A>G
1 paper
NM_006759.4
p.F4L
c.10T>C
1 paper
NM_006759.4
p.F4S
c.11T>C
1 paper
NM_006759.4
p.F4L
c.12T>A
1 paper
NM_006759.4
p.V5E
c.14T>A
1 paper
NM_006759.4
p.V5V
c.15A>G
1 paper
NM_006759.4
p.V5V
c.15A>T
1 paper
NM_006759.4
p.Q6K
c.16C>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."