Varaico: Literature-Extracted Genetic Variants

Gene:UAP1

UAP1

51 papers

Pfam Domains

UDPGPaa 45–472UCSCUTP--glucose-1-phosphate uridylyltransferase

Gene Aliases

HGNC Name

UDP-N-acetylglucosamine pyrophosphorylase 1

HGNC Previous Symbol

SPAG2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 49 variants
2 papers
NM_001324116.5
p.G111A
c.332G>C
2 papers
NM_001324116.5
p.A229T
c.685G>A
2 papers
NM_001324116.5
p.Q241R
c.722A>G
1 paper
NM_001324116.5
p.S11C
c.32C>G
1 paper
NM_001324116.5
p.L25R
c.74T>G
1 paper
NM_001324116.5
p.A28T
c.82G>A
1 paper
NM_001324116.5
p.Y34H
c.100T>C
1 paper
NM_001324116.5
p.E36E
c.108G>A
1 paper
NM_001324116.5
p.Q38Q
c.114G>A
1 paper
NM_001324116.5
p.A39D
c.116C>A
1 paper
NM_001324116.5
p.F56L
c.168T>A
1 paper
NM_001324116.5
p.R74Q
c.221G>A
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