Varaico: Literature-Extracted Genetic Variants

Gene:AACS
Variant:p.E45D

AACS

65 papers

Pfam Domains

ACAS_Naa 47–105UCSCAcetyl-coenzyme A synthetase N-terminus
AMP-bindingaa 103–492UCSCAMP-binding enzyme

Gene Aliases

HGNC Name

acetoacetyl-CoA synthetase

HGNC Alias Symbols

FLJ12389; SUR-5; ACSF1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_023928.5
p.E45D
c.135G>T
Surrounding Variants
1 paper
NM_023928.5
p.E45D
c.135G>C
1 paper
NM_023928.5
p.E45K
c.133G>A
1 paper
NM_023928.5
p.A39T
c.115G>A
1 paper
NM_023928.5
p.A38V
c.113C>T
1 paper
NM_023928.5
p.A34V
c.101C>T
1 paper
NM_023928.5
p.D30G
c.89A>G
1 paper
NM_023928.5
p.D30V
c.89A>T
1 paper
NM_023928.5
p.T27K
c.80C>A
1 paper
NM_023928.5
p.E5E
c.15G>A
1 paper
NM_023928.5
p.E4A
c.11A>C
1 paper
NM_023928.5
p.M1T
c.2T>C
1 paper
NM_023928.5
p.M1insFs
c.1_2insG
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