Varaico: Literature-Extracted Genetic Variants

Gene:ACAT1
Variant:p.V249V

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.V249V
c.747G>C
Surrounding Variants
1 paper
NM_000019.4
p.V250fs
c.748_749fs
1 paper
NM_000019.4
p.V250delFs
c.749delT
1 paper
NM_000019.4
p.V250del1
c.748_749delGTG
7 papers
NM_000019.4
p.E252_D253del1
c.756_758delAGA
1 paper
NM_000019.4
p.V248I
c.742G>A
1 paper
NM_000019.4
p.V248_V249del1
c.744_746delAGT
1 paper
NM_000019.4
p.V248_V250del3
c.742_749del9
1 paper
NM_000019.4
p.E252K
c.754G>A
7 papers
NM_000019.4
p.E252insFs
c.754_755insCT
1 paper
NM_000019.4
p.E252fs
c.754_755fs
1 paper
NM_000019.4
p.E252fs
c.754_755fs
1 paper
NM_000019.4
p.E252D
c.756A>C
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