Varaico: Literature-Extracted Genetic Variants

Gene:ACAT1
Variant:p.G152V

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.G152V
c.455G>T
Surrounding Variants
13 papers
NM_000019.4
p.G152A
c.455G>C
1 paper
NM_000019.4
p.M153L
c.457A>C
1 paper
NM_000019.4
p.M153I
c.459G>A
1 paper
NM_000019.4
p.M153I
c.459G>C
1 paper
NM_000019.4
p.M153I
c.459G>T
3 papers
NM_000019.4
p.E154K
c.460G>A
1 paper
NM_000019.4
p.E154fs
c.460_461fs
2 papers
NM_000019.4
p.E154fs
c.460_461fs
1 paper
NM_000019.4
p.A150V
c.449C>T
3 papers
NM_000019.4
p.E154_Y161Fs
c.462_482delinsTCCTCFs
1 paper
NM_000019.4
p.A150_G151delFs
c.449_452del4
1 paper
NM_000019.4
p.V149fs
c.445_446fs
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