Varaico: Literature-Extracted Genetic Variants

Gene:ACAT1
Variant:p.D253E

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
3 papers
NM_000019.4
p.D253E
c.759T>G
Surrounding Variants
3 papers
NM_000019.4
p.D253E
c.759T>A
1 paper
NM_000019.4
p.D253D
c.759T>C
3 papers
NM_000019.4
p.E254K
c.760G>A
2 papers
NM_000019.4
p.D253N
c.757G>A
2 papers
NM_000019.4
p.E254_Y256del3
c.760_767del9
1 paper
NM_000019.4
p.E252D
c.756A>C
1 paper
NM_000019.4
p.E254E
c.762A>G
1 paper
NM_000019.4
p.E252D
c.756A>T
1 paper
NM_000019.4
p.E255*
c.763G>T
5 papers
NM_000019.4
p.E255A
c.764A>C
1 paper
NM_000019.4
p.E255V
c.764A>T
1 paper
NM_000019.4
p.E252K
c.754G>A
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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."