Varaico: Literature-Extracted Genetic Variants

Gene:UAP1
Variant:p.M124L

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
1 paper
NM_001324116.5
p.M124L
c.370A>T
Surrounding Variants
1 paper
NM_001324116.5
p.M124L
c.370A>C
1 paper
NM_001324116.5
p.K133K
c.399G>A
2 papers
NM_001324116.5
p.G111A
c.332G>C
1 paper
NM_001324116.5
p.Q137fs
c.409_410fs
1 paper
NM_001324116.5
p.F96S
c.287T>C
1 paper
NM_001324116.5
p.K188delFs
c.564delA
1 paper
NM_001324116.5
p.E189fs
c.565_566fs
1 paper
NM_001324116.5
p.A201S
c.601G>T
1 paper
NM_001324116.5
p.D205N
c.613G>A
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.G222A
c.665G>C
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