Varaico: Literature-Extracted Genetic Variants

Gene:ACAT1
Variant:p.K373*

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
4 papers
NM_000019.4
p.K373*
c.1117A>T
Surrounding Variants
1 paper
NM_000019.4
p.V374_G388delFs
c.1120_1163del44
2 papers
NM_000019.4
p.K373insFs
c.1119dupA
1 paper
NM_000019.4
p.Q372*
c.1114C>T
1 paper
NM_000019.4
p.V374fs
c.1120_1121fs
1 paper
NM_000019.4
p.N375_I376del2
c.1123_1127del6
20 papers
NM_000019.4
p.N375S
c.1124A>G
1 paper
NM_000019.4
p.I376_N377insFs
c.1128_1131dup4
1 paper
NM_000019.4
p.I376I
c.1128C>A
1 paper
NM_000019.4
p.I376I
c.1128C>T
1 paper
NM_000019.4
p.I369V
c.1105A>G
1 paper
NM_000019.4
p.I369_Q372del4
c.1105_1115del12
1 paper
NM_000019.4
p.N377N
c.1131T>C
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