Varaico: Literature-Extracted Genetic Variants

Gene:ACAT1
Variant:p.M335V

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.M335V
c.1003A>G
Surrounding Variants
1 paper
NM_000019.4
p.M335_V336Splc
c.1005+1G>A
1 paper
NM_000019.4
p.M335_V336Splc
c.1005+2T>G
17 papers
NM_000019.4
p.A333P
c.997G>C
1 paper
NM_000019.4
p.A332A
c.996T>C
1 paper
NM_000019.4
p.A333insFs
c.997_998insG
1 paper
NM_000019.4
p.Y331H
c.991T>C
1 paper
NM_000019.4
p.V330V
c.990A>G
1 paper
NM_000019.4
p.A328A
c.984T>A
2 papers
NM_000019.4
p.A328V
c.983C>T
1 paper
NM_000019.4
p.I327V
c.979A>G
1 paper
NM_000019.4
p.P326P
c.978A>C
1 paper
NM_000019.4
p.P326A
c.976C>G
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