Varaico: Literature-Extracted Genetic Variants

Gene:ACAT1
Variant:p.G388Splc

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.G388Splc
c.1163+5G>C
Surrounding Variants
7 papers
NM_000019.4
p.G388Splc
c.1163+2T>C
1 paper
NM_000019.4
p.G388Splc
c.1163+1G>A
4 papers
NM_000019.4
p.G388E
c.1163G>A
1 paper
NM_000019.4
p.G388A
c.1163G>C
5 papers
NM_000019.4
p.G388V
c.1163G>T
1 paper
NM_000019.4
p.G388insFs
c.1163_1164ins4
1 paper
NM_000019.4
p.G388insFs
c.1163_1164insG
10 papers
NM_000019.4
p.I387T
c.1160T>C
1 paper
NM_000019.4
p.I387L
c.1159A>C
3 papers
NM_000019.4
p.H385L
c.1154A>T
1 paper
NM_000019.4
p.H385Y
c.1153C>T
1 paper
NM_000019.4
p.G384G
c.1152A>C
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