Varaico: Literature-Extracted Genetic Variants

Gene:ACAT1
Variant:p.K343R

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.K343R
c.1028A>G
Surrounding Variants
4 papers
NM_000019.4
p.E345del1
c.1033_1034delGAA
1 paper
NM_000019.4
p.L342L
c.1026G>A
3 papers
NM_000019.4
p.K344insFs
c.1032dupA
3 papers
NM_000019.4
p.E345delFs
c.1033_1034delGA
1 paper
NM_000019.4
p.G341G
c.1023A>G
2 papers
NM_000019.4
p.E345fs
c.1033_1034fs
1 paper
NM_000019.4
p.E345fs
c.1033_1034fs
2 papers
NM_000019.4
p.E345V
c.1034A>T
1 paper
NM_000019.4
p.V340ins1
c.1019_1020insATG
1 paper
NM_000019.4
p.V340M
c.1018G>A
1 paper
NM_000019.4
p.D339A
c.1016A>C
6 papers
NM_000019.4
p.I347T
c.1040T>C
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