Varaico: Literature-Extracted Genetic Variants

Gene:ACAT1
Variant:p.A132P

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.A132P
c.394G>C
Surrounding Variants
5 papers
NM_000019.4
p.A132G
c.395C>G
1 paper
NM_000019.4
p.I133I
c.399C>T
1 paper
NM_000019.4
p.M130K
c.389T>A
4 papers
NM_000019.4
p.M134T
c.401T>C
1 paper
NM_000019.4
p.S128S
c.384A>G
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
12 papers
NM_000019.4
p.A127V
c.380C>T
1 paper
NM_000019.4
p.A127fs
c.379_380fs
1 paper
NM_000019.4
p.S137fs
c.409_410fs
2 papers
NM_000019.4
p.S137F
c.410C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."