Varaico: Literature-Extracted Genetic Variants

Gene:ACAT1
Variant:p.L361L

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.L361L
c.1081C>T
Surrounding Variants
2 papers
NM_000019.4
p.L361insFs
c.1083dupA
1 paper
NM_000019.4
p.A362insFs
c.1084_1085insC
1 paper
NM_000019.4
p.A362fs
c.1084_1085fs
1 paper
NM_000019.4
p.A362fs
c.1084_1085fs
1 paper
NM_000019.4
p.V359V
c.1077T>G
1 paper
NM_000019.4
p.N363_I364del2
c.1087_1091del6
1 paper
NM_000019.4
p.V359fs
c.1075_1076fs
1 paper
NM_000019.4
p.L358_K365Fs
c.1074_1094delinsCCFs
1 paper
NM_000019.4
p.N363N
c.1089C>T
1 paper
NM_000019.4
p.M366_I369del4
c.1096_1106del12
1 paper
NM_000019.4
p.M366fs
c.1096_1097fs
1 paper
NM_000019.4
p.M366insFs
c.1097dupT
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