Varaico: Literature-Extracted Genetic Variants

Gene:ACAT1
Variant:p.K243R

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.K243R
c.728A>G
Surrounding Variants
1 paper
NM_000019.4
p.K243_G244insFs
c.729_730insTT
3 papers
NM_000019.4
p.G244Splc
c.730+1G>A
1 paper
NM_000019.4
p.G244Splc
c.730+2T>C
1 paper
NM_000019.4
p.T241fs
c.721_722fs
1 paper
NM_000019.4
p.T241A
c.721A>G
3 papers
NM_000019.4
p.T241fs
c.721_722fs
6 papers
NM_000019.4
p.T241insFs
c.721dupA
1 paper
NM_000019.4
p.V240insFs
c.720dupT
1 paper
NM_000019.4
p.T239fs
c.715_716fs
1 paper
NM_000019.4
p.T239delFs
c.716_717delCA
1 paper
NM_000019.4
p.P237T
c.709C>A
1 paper
NM_000019.4
p.I236T
c.707T>C
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