Varaico: Literature-Extracted Genetic Variants

Gene:UGP2
Variant:p.K291_G292Splc

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.K291_G292Splc
c.873+24T>C
Surrounding Variants
1 paper
NM_006759.4
p.K291_G292Splc
c.873+30T>C
1 paper
NM_006759.4
p.K291_G292Splc
c.873+14G>A
1 paper
NM_006759.4
p.K291_G292Splc
c.873+34T>G
1 paper
NM_006759.4
p.K291_G292Splc
c.873+36T>C
1 paper
NM_006759.4
p.K291_G292Splc
c.873+10G>A
1 paper
NM_006759.4
p.K291_G292Splc
c.873+10G>T
1 paper
NM_006759.4
p.K291_G292Splc
c.873+9C>T
1 paper
NM_006759.4
p.K291_G292Splc
c.873+42C>T
1 paper
NM_006759.4
p.K291_G292Splc
c.873+47C>T
1 paper
NM_006759.4
p.K291_G292Splc
c.873+48G>A
1 paper
NM_006759.4
p.K291_G292Splc
c.873+48G>T
1 paper
NM_006759.4
p.V290I
c.868G>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."