Varaico: Literature-Extracted Genetic Variants

Gene:ACAT1
Variant:p.S137fs

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.S137fs
c.409_410fs
Surrounding Variants
2 papers
NM_000019.4
p.S137F
c.410C>T
2 papers
NM_000019.4
p.S137_L140Fs
c.410_418delinsTFs
1 paper
NM_000019.4
p.Q138fs
c.412_413fs
3 papers
NM_000019.4
p.Q138_S139delFs
c.414_415delAA
1 paper
NM_000019.4
p.Q138fs
c.412_413fs
2 papers
NM_000019.4
p.M135I
c.405G>A
2 papers
NM_000019.4
p.M135I
c.405G>C
2 papers
NM_000019.4
p.M135I
c.405G>T
1 paper
NM_000019.4
p.S139delFs
c.416delG
1 paper
NM_000019.4
p.S139fs
c.415_416fs
1 paper
NM_000019.4
p.S139delFs
c.417delT
4 papers
NM_000019.4
p.M134T
c.401T>C
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