Varaico: Literature-Extracted Genetic Variants

Gene:AACS
Variant:p.V80G

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.V80G
c.239T>G
Surrounding Variants
1 paper
NM_023928.5
p.E79_V80Splc
c.238-4A>G
1 paper
NM_023928.5
p.G86G
c.258A>T
1 paper
NM_023928.5
p.I87F
c.259A>T
1 paper
NM_023928.5
p.A88V
c.263C>T
1 paper
NM_023928.5
p.R98W
c.292C>T
1 paper
NM_023928.5
p.A102T
c.304G>A
1 paper
NM_023928.5
p.L105P
c.314T>C
1 paper
NM_023928.5
p.E110G
c.329A>G
1 paper
NM_023928.5
p.D112A
c.335A>C
1 paper
NM_023928.5
p.Y117F
c.350A>T
2 papers
NM_023928.5
p.I118V
c.352A>G
1 paper
NM_023928.5
p.A119T
c.355G>A
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