Varaico: Literature-Extracted Genetic Variants

Gene:UGP2
Variant:p.L201F

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.L201F
c.603A>T
Surrounding Variants
1 paper
NM_006759.4
p.L201F
c.603A>C
1 paper
NM_006759.4
p.L201S
c.602T>C
1 paper
NM_006759.4
p.L202L
c.606T>C
1 paper
NM_006759.4
p.S200Y
c.599C>A
1 paper
NM_006759.4
p.E199D
c.597A>C
1 paper
NM_006759.4
p.E199E
c.597A>G
1 paper
NM_006759.4
p.E199D
c.597A>T
1 paper
NM_006759.4
p.K198N
c.594A>C
1 paper
NM_006759.4
p.V204V
c.612A>G
1 paper
NM_006759.4
p.K198N
c.594A>T
1 paper
NM_006759.4
p.K198R
c.593A>G
1 paper
NM_006759.4
p.K198E
c.592A>G
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