Varaico: Literature-Extracted Genetic Variants

Gene:ACAT1
Variant:p.G183R

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
13 papers
NM_000019.4
p.G183R
c.547G>C
Surrounding Variants
13 papers
NM_000019.4
p.G183R
c.547G>A
1 paper
NM_000019.4
p.D182E
c.546C>A
1 paper
NM_000019.4
p.D182D
c.546C>T
1 paper
NM_000019.4
p.L184_T185delFs
c.552_555del4
1 paper
NM_000019.4
p.L184L
c.550C>T
1 paper
NM_000019.4
p.K181fs
c.541_542fs
1 paper
NM_000019.4
p.T185_V187Fs
c.554_559delinsTGTGFs
1 paper
NM_000019.4
p.K181delFs
c.542_543delAA
1 paper
NM_000019.4
p.D186N
c.556G>A
6 papers
NM_000019.4
p.D186Y
c.556G>T
1 paper
NM_000019.4
p.I179fs
c.535_536fs
1 paper
NM_000019.4
p.I179delFs
c.537delT
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