Varaico: Literature-Extracted Genetic Variants

Gene:ACAT1
Variant:p.V381A

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
2 papers
NM_000019.4
p.V381A
c.1142T>C
Surrounding Variants
7 papers
NM_000019.4
p.A380T
c.1138G>A
2 papers
NM_000019.4
p.L383L
c.1147C>T
6 papers
NM_000019.4
p.G379V
c.1136G>T
1 paper
NM_000019.4
p.G378G
c.1134A>G
1 paper
NM_000019.4
p.G384G
c.1152A>C
1 paper
NM_000019.4
p.G378fs
c.1132_1133fs
1 paper
NM_000019.4
p.H385Y
c.1153C>T
1 paper
NM_000019.4
p.N377N
c.1131T>C
1 paper
NM_000019.4
p.G378_G379del2
c.1132_1136del6
3 papers
NM_000019.4
p.H385L
c.1154A>T
1 paper
NM_000019.4
p.I376I
c.1128C>A
1 paper
NM_000019.4
p.I376I
c.1128C>T
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