Varaico: Literature-Extracted Genetic Variants

Gene:ACAT1
Variant:p.Q272H

ACAT1

226 papers

RefSeq Summary

This gene encodes a mitochondrially localized enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. Defects in this gene are associated with 3-ketothiolas...

Pfam Domains

Thiolase_Naa 1–209UCSCThiolase, N-terminal domain
Thiolase_Caa 216–336UCSCThiolase, C-terminal domain

Gene Aliases

HGNC Name

acetyl-CoA acetyltransferase 1

HGNC Alias Symbol

THIL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000019.4
p.Q272H
c.816G>T
Surrounding Variants
1 paper
NM_000019.4
p.Q272H
c.816G>C
1 paper
NM_000019.4
p.Q272fs
c.814_815fs
13 papers
NM_000019.4
p.Q272*
c.814C>T
1 paper
NM_000019.4
p.N275delFs
c.824delA
1 paper
NM_000019.4
p.Q272delFs
c.814delC
1 paper
NM_000019.4
p.V270V
c.810T>C
1 paper
NM_000019.4
p.N275fs
c.823_824fs
1 paper
NM_000019.4
p.T269T
c.807A>G
1 paper
NM_000019.4
p.T269fs
c.805_806fs
6 papers
NM_000019.4
p.G276Splc
c.826+1G>T
1 paper
NM_000019.4
p.T269delFs
c.806_807delCA
1 paper
NM_000019.4
p.G276Splc
c.826+2T>C
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