Varaico: Literature-Extracted Genetic Variants

Gene:UGP2
Variant:p.S85_I86Splc

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.S85_I86Splc
c.255+26A>G
Surrounding Variants
1 paper
NM_006759.4
p.S85_I86Splc
c.255+28T>C
1 paper
NM_006759.4
p.S85_I86Splc
c.255+29G>A
1 paper
NM_006759.4
p.S85_I86Splc
c.255+32G>A
1 paper
NM_006759.4
p.S85_I86Splc
c.255+20T>C
1 paper
NM_006759.4
p.S85_I86Splc
c.255+19G>A
1 paper
NM_006759.4
p.S85_I86Splc
c.255+34G>A
1 paper
NM_006759.4
p.S85_I86Splc
c.255+39C>T
1 paper
NM_006759.4
p.S85_I86Splc
c.255+11G>A
1 paper
NM_006759.4
p.S85_I86Splc
c.255+44G>A
1 paper
NM_006759.4
p.S85_I86Splc
c.255+44G>C
1 paper
NM_006759.4
p.S85_I86Splc
c.255+46A>C
1 paper
NM_006759.4
p.S85_I86Splc
c.255+48T>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."