Varaico: Literature-Extracted Genetic Variants

Gene:MAPDA
Variant:p.S180N

MAPDA

28 papers

Pfam Domains

A_deaminaseaa 19–347UCSCAdenosine deaminase

Gene Aliases

HGNC Name

N6-Methyl-AMP deaminase

HGNC Previous Symbol

ADAL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001324366.2
p.S180N
c.539G>A
Surrounding Variants
1 paper
NM_001324366.2
p.T184_V185Splc
c.552+1G>A
1 paper
NM_001324366.2
p.L144*
c.431T>A
1 paper
NM_001324366.2
p.A188T
c.562G>A
1 paper
NM_001324366.2
p.D138H
c.412G>C
1 paper
NM_001324366.2
p.K133K
c.399A>G
1 paper
NM_001324366.2
p.Y121Y
c.363T>C
1 paper
NM_001324366.2
p.G233G
c.699A>C
1 paper
NM_001324366.2
p.N237S
c.710A>G
1 paper
NM_001324366.2
p.G239S
c.715G>A
1 paper
NM_001324366.2
p.G239A
c.716G>C
1 paper
NM_001324366.2
p.R254Q
c.761G>A
1 paper
NM_001324366.2
p.L261S
c.782T>C
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