Varaico: Literature-Extracted Genetic Variants

Gene:ACAT1
Variant:p.T120T

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.T120T
c.360C>T
Surrounding Variants
1 paper
NM_000019.4
p.T121_I122delFs
c.363_364delCA
1 paper
NM_000019.4
p.I122V
c.364A>G
1 paper
NM_000019.4
p.C119Y
c.356G>A
1 paper
NM_000019.4
p.I122R
c.365T>G
1 paper
NM_000019.4
p.C119fs
c.355_356fs
3 papers
NM_000019.4
p.I122_N123delFs
c.366_369del4
3 papers
NM_000019.4
p.C119fs
c.355_356fs
1 paper
NM_000019.4
p.P118P
c.354A>G
5 papers
NM_000019.4
p.P118_C119Fs
c.354_355delinsGFs
1 paper
NM_000019.4
p.N123fs
c.367_368fs
1 paper
NM_000019.4
p.N123K
c.369C>A
1 paper
NM_000019.4
p.N123K
c.369C>G
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