Varaico: Literature-Extracted Genetic Variants

Gene:ACAT1
Variant:p.I369V

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.I369V
c.1105A>G
Surrounding Variants
1 paper
NM_000019.4
p.I369_Q372del4
c.1105_1115del12
1 paper
NM_000019.4
p.L367L
c.1101G>A
1 paper
NM_000019.4
p.L367*
c.1100T>A
1 paper
NM_000019.4
p.L367L
c.1099T>C
1 paper
NM_000019.4
p.M366fs
c.1096_1097fs
1 paper
NM_000019.4
p.M366insFs
c.1097dupT
1 paper
NM_000019.4
p.M366V
c.1096A>G
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.M366_I369del4
c.1096_1106del12
4 papers
NM_000019.4
p.K373*
c.1117A>T
1 paper
NM_000019.4
p.V374_G388delFs
c.1120_1163del44
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