Varaico: Literature-Extracted Genetic Variants

Gene:ACAT1
Variant:p.L178L

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.L178L
c.532T>C
Surrounding Variants
3 papers
NM_000019.4
p.L178F
c.534G>C
3 papers
NM_000019.4
p.L178F
c.534G>T
1 paper
NM_000019.4
p.I179fs
c.535_536fs
1 paper
NM_000019.4
p.I179delFs
c.537delT
1 paper
NM_000019.4
p.E176G
c.527A>G
1 paper
NM_000019.4
p.K181delFs
c.542_543delAA
1 paper
NM_000019.4
p.K181fs
c.541_542fs
1 paper
NM_000019.4
p.D182E
c.546C>A
1 paper
NM_000019.4
p.D182D
c.546C>T
13 papers
NM_000019.4
p.G183R
c.547G>A
13 papers
NM_000019.4
p.G183R
c.547G>C
1 paper
NM_000019.4
p.L184_T185delFs
c.552_555del4
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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."