Varaico: Literature-Extracted Genetic Variants

Gene:ACAT1
Variant:p.V149fs

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.V149fs
c.445_446fs
Surrounding Variants
1 paper
NM_000019.4
p.V149fs
c.445_446fs
2 papers
NM_000019.4
p.V149delFs
c.446delT
1 paper
NM_000019.4
p.A150_G151delFs
c.449_452del4
3 papers
NM_000019.4
p.M148_V149delFs
c.444_445delGG
3 papers
NM_000019.4
p.M148fs
c.442_443fs
1 paper
NM_000019.4
p.A150V
c.449C>T
1 paper
NM_000019.4
p.V147A
c.440T>C
1 paper
NM_000019.4
p.V147L
c.439G>C
1 paper
NM_000019.4
p.V147L
c.439G>T
1 paper
NM_000019.4
p.D146D
c.438T>C
1 paper
NM_000019.4
p.D146N
c.436G>A
13 papers
NM_000019.4
p.G152A
c.455G>C
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."