Varaico: Literature-Extracted Genetic Variants

Gene:ACAT1
Variant:p.A314Splc

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.A314Splc
c.941-13T>C
Surrounding Variants
1 paper
NM_000019.4
p.A314Splc
c.941-14C>T
3 papers
NM_000019.4
p.A314Splc
c.941-9T>A
3 papers
NM_000019.4
p.A314G
c.941C>G
2 papers
NM_000019.4
p.A316_D317ins0
c.947_949dupCTG
2 papers
NM_000019.4
p.A316V
c.947C>T
13 papers
NM_000019.4
p.D317N
c.949G>A
17 papers
NM_000019.4
p.D317D
c.951C>T
1 paper
NM_000019.4
p.A314Splc
c.941-36G>A
2 papers
NM_000019.4
p.A318T
c.952G>A
1 paper
NM_000019.4
p.V320E
c.959T>A
1 paper
NM_000019.4
p.V320A
c.959T>C
1 paper
NM_000019.4
p.V320V
c.960A>G
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."