Varaico: Literature-Extracted Genetic Variants

Gene:ACAT1
Variant:p.Q245*

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.Q245*
c.733C>T
Surrounding Variants
1 paper
NM_000019.4
p.Q245L
c.734A>T
1 paper
NM_000019.4
p.G244G
c.732T>A
1 paper
NM_000019.4
p.G244Splc
c.731-2A>G
1 paper
NM_000019.4
p.P246P
c.738A>G
1 paper
NM_000019.4
p.V248_V249del1
c.744_746delAGT
1 paper
NM_000019.4
p.V248_V250del3
c.742_749del9
1 paper
NM_000019.4
p.V248I
c.742G>A
1 paper
NM_000019.4
p.V250del1
c.748_749delGTG
1 paper
NM_000019.4
p.V249V
c.747G>C
1 paper
NM_000019.4
p.V250fs
c.748_749fs
1 paper
NM_000019.4
p.V250delFs
c.749delT
7 papers
NM_000019.4
p.E252_D253del1
c.756_758delAGA
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."