Varaico: Literature-Extracted Genetic Variants

Gene:ACAT1
Variant:p.A215delins

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.A215delins
c.643_644delinsAA
Surrounding Variants
1 paper
NM_000019.4
p.A215V
c.644C>T
6 papers
NM_000019.4
p.Y214*
c.642T>A
1 paper
NM_000019.4
p.Y214Y
c.642T>C
6 papers
NM_000019.4
p.Y214*
c.642T>G
1 paper
NM_000019.4
p.Y214F
c.641A>T
1 paper
NM_000019.4
p.N217_S218insFs
c.649_652dup4
1 paper
NM_000019.4
p.N217_S218delFs
c.649_652del4
1 paper
NM_000019.4
p.Y214D
c.640T>G
1 paper
NM_000019.4
p.N217fs
c.649_650fs
1 paper
NM_000019.4
p.A213T
c.637G>A
1 paper
NM_000019.4
p.D212D
c.636C>T
1 paper
NM_000019.4
p.Y219insFs
c.655_656ins7
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."