Varaico: Literature-Extracted Genetic Variants

Gene:AACS

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
1–12 of 168 variants
3 papers
NM_023928.5
p.P627L
c.1880C>T
2 papers
NM_023928.5
p.I118V
c.352A>G
1 paper
NM_023928.5
p.M1insFs
c.1_2insG
1 paper
NM_023928.5
p.M1_S2insG
c.1_5ins3
1 paper
NM_023928.5
p.M1L
c.1A>C
1 paper
NM_023928.5
p.M1V
c.1A>G
1 paper
NM_023928.5
p.M1L
c.1A>T
1 paper
NM_023928.5
p.M1T
c.2T>C
1 paper
NM_023928.5
p.E4A
c.11A>C
1 paper
NM_023928.5
p.E5E
c.15G>A
1 paper
NM_023928.5
p.T27K
c.80C>A
1 paper
NM_023928.5
p.D30G
c.89A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."