Varaico: Literature-Extracted Genetic Variants

Gene:ACAT1

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
1–12 of 677 variants
27 papers
NM_000019.4
p.R208*
c.622C>T
22 papers
NM_000019.4
p.N158D
c.472A>G
20 papers
NM_000019.4
p.N375S
c.1124A>G
17 papers
NM_000019.4
p.H144P
c.431A>C
17 papers
NM_000019.4
p.D317D
c.951C>T
17 papers
NM_000019.4
p.A333P
c.997G>C
14 papers
NM_000019.4
p.M335_V336Splc
c.1006-1G>C
13 papers
NM_000019.4
p.G152A
c.455G>C
13 papers
NM_000019.4
p.G183R
c.547G>A
13 papers
NM_000019.4
p.G183R
c.547G>C
13 papers
NM_000019.4
p.M193R
c.578T>G
13 papers
NM_000019.4
p.Q272*
c.814C>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."