Varaico: Literature-Extracted Genetic Variants

Gene:ACAT1
Variant:p.N217fs

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.N217fs
c.649_650fs
Surrounding Variants
1 paper
NM_000019.4
p.Y219insFs
c.655_656ins7
7 papers
NM_000019.4
p.S218F
c.653C>T
1 paper
NM_000019.4
p.N217_S218insFs
c.649_652dup4
1 paper
NM_000019.4
p.N217_S218delFs
c.649_652del4
1 paper
NM_000019.4
p.A215V
c.644C>T
3 papers
NM_000019.4
p.A215delins
c.643_644delinsAA
8 papers
NM_000019.4
p.Y219H
c.655T>C
1 paper
NM_000019.4
p.Y219D
c.655T>G
1 paper
NM_000019.4
p.Y219F
c.656A>T
6 papers
NM_000019.4
p.Y214*
c.642T>A
1 paper
NM_000019.4
p.Y214Y
c.642T>C
6 papers
NM_000019.4
p.Y214*
c.642T>G
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