Varaico: Literature-Extracted Genetic Variants

Gene:ACAT1
Variant:p.Q145_D146Splc

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
3 papers
NM_000019.4
p.Q145_D146Splc
c.435+1G>A
Surrounding Variants
1 paper
NM_000019.4
p.Q145_D146Splc
c.435+4A>G
5 papers
NM_000019.4
p.Q145E
c.433C>G
1 paper
NM_000019.4
p.Q145*
c.433C>T
17 papers
NM_000019.4
p.H144P
c.431A>C
1 paper
NM_000019.4
p.G143R
c.427G>A
1 paper
NM_000019.4
p.C142F
c.425G>T
1 paper
NM_000019.4
p.M141T
c.422T>C
1 paper
NM_000019.4
p.M141L
c.421A>C
1 paper
NM_000019.4
p.M141L
c.421A>T
1 paper
NM_000019.4
p.M141fs
c.421_422fs
6 papers
NM_000019.4
p.L140R
c.419T>G
1 paper
NM_000019.4
p.L140fs
c.418_419fs
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