Varaico: Literature-Extracted Genetic Variants

Gene:ACAT1
Variant:p.R208*

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
27 papers
NM_000019.4
p.R208*
c.622C>T
Surrounding Variants
1 paper
NM_000019.4
p.R208R
c.622C>A
1 paper
NM_000019.4
p.R208G
c.622C>G
8 papers
NM_000019.4
p.R208Q
c.623G>A
1 paper
NM_000019.4
p.N209insFs
c.626dupA
1 paper
NM_000019.4
p.N209_E210ins0
c.627_629dupTGA
1 paper
NM_000019.4
p.N209fs
c.625_626fs
1 paper
NM_000019.4
p.N209N
c.627T>C
1 paper
NM_000019.4
p.N205N
c.615T>C
1 paper
NM_000019.4
p.N205H
c.613A>C
4 papers
NM_000019.4
p.Q211K
c.631C>A
1 paper
NM_000019.4
p.Q211Q
c.633G>A
1 paper
NM_000019.4
p.K203K
c.609G>A
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