Varaico: Literature-Extracted Genetic Variants

Gene:ACAT1
Variant:p.V159V

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.V159V
c.477T>G
Surrounding Variants
1 paper
NM_000019.4
p.P160A
c.478C>G
1 paper
NM_000019.4
p.V159I
c.475G>A
1 paper
NM_000019.4
p.P160P
c.480A>G
12 papers
NM_000019.4
p.N158S
c.473A>G
4 papers
NM_000019.4
p.Y161H
c.481T>C
22 papers
NM_000019.4
p.N158D
c.472A>G
2 papers
NM_000019.4
p.S157S
c.471C>A
1 paper
NM_000019.4
p.Y161Y
c.483T>C
1 paper
NM_000019.4
p.N164_R165delFs
c.491_495del5
1 paper
NM_000019.4
p.M163I
c.489G>A
1 paper
NM_000019.4
p.M163I
c.489G>C
1 paper
NM_000019.4
p.M163I
c.489G>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."