Varaico: Literature-Extracted Genetic Variants

Gene:AACS
Variant:p.F595L

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.F595L
c.1785C>G
Surrounding Variants
1 paper
NM_023928.5
p.F595L
c.1785C>A
1 paper
NM_023928.5
p.Q596P
c.1787A>C
1 paper
NM_023928.5
p.F595L
c.1783T>C
1 paper
NM_023928.5
p.V600D
c.1799T>A
1 paper
NM_023928.5
p.K601E
c.1801A>G
1 paper
NM_023928.5
p.K601T
c.1802A>C
1 paper
NM_023928.5
p.K601N
c.1803G>C
1 paper
NM_023928.5
p.K601N
c.1803G>T
1 paper
NM_023928.5
p.M589L
c.1765A>C
1 paper
NM_023928.5
p.M589L
c.1765A>T
1 paper
NM_023928.5
p.E580K
c.1738G>A
1 paper
NM_023928.5
p.A613V
c.1838C>T
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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."