Varaico: Literature-Extracted Genetic Variants

Gene:UAP1
Variant:p.Q241R

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
Selected Variant
2 papers
NM_001324116.5
p.Q241R
c.722A>G
Surrounding Variants
1 paper
NM_001324116.5
p.I244T
c.731T>C
2 papers
NM_001324116.5
p.A229T
c.685G>A
1 paper
NM_001324116.5
p.G224A
c.671G>C
1 paper
NM_001324116.5
p.A260V
c.779C>T
1 paper
NM_001324116.5
p.G222A
c.665G>C
1 paper
NM_001324116.5
p.P220A
c.658C>G
1 paper
NM_001324116.5
p.P220S
c.658C>T
1 paper
NM_001324116.5
p.D205N
c.613G>A
1 paper
NM_001324116.5
p.A201S
c.601G>T
1 paper
NM_001324116.5
p.E189fs
c.565_566fs
1 paper
NM_001324116.5
p.K188delFs
c.564delA
1 paper
NM_001324116.5
p.Q137fs
c.409_410fs
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