Varaico: Literature-Extracted Genetic Variants

Gene:ACAT1
Variant:p.I122R

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.I122R
c.365T>G
Surrounding Variants
3 papers
NM_000019.4
p.I122_N123delFs
c.366_369del4
1 paper
NM_000019.4
p.I122V
c.364A>G
1 paper
NM_000019.4
p.N123fs
c.367_368fs
1 paper
NM_000019.4
p.T121_I122delFs
c.363_364delCA
1 paper
NM_000019.4
p.N123K
c.369C>A
1 paper
NM_000019.4
p.N123K
c.369C>G
3 papers
NM_000019.4
p.K124Q
c.370A>C
4 papers
NM_000019.4
p.K124E
c.370A>G
1 paper
NM_000019.4
p.T120T
c.360C>T
5 papers
NM_000019.4
p.K124R
c.371A>G
5 papers
NM_000019.4
p.V125F
c.373G>T
1 paper
NM_000019.4
p.V125_C126delFs
c.375_376delTT
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