Varaico: Literature-Extracted Genetic Variants

Gene:ACAT1
Variant:p.S128S

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.S128S
c.384A>G
Surrounding Variants
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.M130K
c.389T>A
1 paper
NM_000019.4
p.C126C
c.378T>C
3 papers
NM_000019.4
p.C126S
c.377G>C
3 papers
NM_000019.4
p.C126S
c.376T>A
1 paper
NM_000019.4
p.V125V
c.375T>C
1 paper
NM_000019.4
p.C126_A127delFs
c.378_379delTG
1 paper
NM_000019.4
p.A132P
c.394G>C
5 papers
NM_000019.4
p.A132G
c.395C>G
5 papers
NM_000019.4
p.V125F
c.373G>T
1 paper
NM_000019.4
p.V125_C126delFs
c.375_376delTT
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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."