Varaico: Literature-Extracted Genetic Variants

Gene:UGP2
Variant:p.E68D

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.E68D
c.204A>C
Surrounding Variants
1 paper
NM_006759.4
p.E68D
c.204A>T
1 paper
NM_006759.4
p.G70E
c.209G>A
1 paper
NM_006759.4
p.G70G
c.210G>A
2 papers
NM_006759.4
p.S72F
c.215C>T
1 paper
NM_006759.4
p.H63R
c.188A>G
1 paper
NM_006759.4
p.H63L
c.188A>T
1 paper
NM_006759.4
p.D74A
c.221A>C
1 paper
NM_006759.4
p.F62L
c.186T>A
1 paper
NM_006759.4
p.D74D
c.222T>C
1 paper
NM_006759.4
p.F62L
c.186T>G
1 paper
NM_006759.4
p.W75S
c.224G>C
1 paper
NM_006759.4
p.F62L
c.184T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."