Varaico: Literature-Extracted Genetic Variants

Gene:UGP2
Variant:p.N214S

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.N214S
c.641A>G
Surrounding Variants
1 paper
NM_006759.4
p.N214D
c.640A>G
1 paper
NM_006759.4
p.T215I
c.644C>T
1 paper
NM_006759.4
p.A217T
c.649G>A
1 paper
NM_006759.4
p.Y219Y
c.657C>T
1 paper
NM_006759.4
p.D207D
c.621C>T
1 paper
NM_006759.4
p.D207N
c.619G>A
1 paper
NM_006759.4
p.G222A
c.665G>C
1 paper
NM_006759.4
p.A205A
c.615A>G
1 paper
NM_006759.4
p.H223L
c.668A>T
1 paper
NM_006759.4
p.H223H
c.669T>C
1 paper
NM_006759.4
p.V204V
c.612A>G
1 paper
NM_006759.4
p.L202L
c.606T>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."