Varaico: Literature-Extracted Genetic Variants

Gene:ACAT1
Variant:p.M193R

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.M193R
c.578T>G
Surrounding Variants
5 papers
NM_000019.4
p.M193T
c.578T>C
1 paper
NM_000019.4
p.H192R
c.575A>G
1 paper
NM_000019.4
p.I191fs
c.571_572fs
1 paper
NM_000019.4
p.I191delFs
c.571delA
1 paper
NM_000019.4
p.N189insFs
c.567dupT
1 paper
NM_000019.4
p.Y188C
c.563A>G
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.T185_V187Fs
c.554_559delinsTGTGFs
1 paper
NM_000019.4
p.L184L
c.550C>T
1 paper
NM_000019.4
p.L184_T185delFs
c.552_555del4
13 papers
NM_000019.4
p.G183R
c.547G>A
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