Varaico: Literature-Extracted Genetic Variants

Gene:UGP2
Variant:p.M268L

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.M268L
c.802A>T
Surrounding Variants
1 paper
NM_006759.4
p.M268L
c.802A>C
1 paper
NM_006759.4
p.N269S
c.806A>G
1 paper
NM_006759.4
p.N272S
c.815A>G
1 paper
NM_006759.4
p.Y262C
c.785A>G
1 paper
NM_006759.4
p.K274E
c.820A>G
1 paper
NM_006759.4
p.Y262H
c.784T>C
1 paper
NM_006759.4
p.L261L
c.783G>C
1 paper
NM_006759.4
p.R275C
c.823C>T
1 paper
NM_006759.4
p.R275H
c.824G>A
1 paper
NM_006759.4
p.D260G
c.779A>G
1 paper
NM_006759.4
p.C276Y
c.827G>A
1 paper
NM_006759.4
p.E277G
c.830A>G
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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."