Varaico: Literature-Extracted Genetic Variants

Gene:ACAT1
Variant:p.S222R

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
4 papers
NM_000019.4
p.S222R
c.666T>G
Surrounding Variants
4 papers
NM_000019.4
p.S222R
c.666T>A
1 paper
NM_000019.4
p.S222S
c.666T>C
4 papers
NM_000019.4
p.S222R
c.664A>C
1 paper
NM_000019.4
p.A224P
c.670G>C
3 papers
NM_000019.4
p.A225E
c.674C>A
1 paper
NM_000019.4
p.Y219F
c.656A>T
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.W226C
c.678G>C
1 paper
NM_000019.4
p.W226C
c.678G>T
1 paper
NM_000019.4
p.Y219insFs
c.655_656ins7
7 papers
NM_000019.4
p.S218F
c.653C>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."