Varaico: Literature-Extracted Genetic Variants

Gene:ACAT1
Variant:p.M335_V336Splc

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
14 papers
NM_000019.4
p.M335_V336Splc
c.1006-1G>C
Surrounding Variants
4 papers
NM_000019.4
p.M335_V336Splc
c.1006-1G>A
7 papers
NM_000019.4
p.M335_V336Splc
c.1006-2A>C
2 papers
NM_000019.4
p.V336fs
c.1006_1007fs
3 papers
NM_000019.4
p.K338_D339insFs
c.1013_1016dup4
2 papers
NM_000019.4
p.D339_V340ins0
c.1016_1018dupATG
1 paper
NM_000019.4
p.M335_V336Splc
c.1006-10A>G
1 paper
NM_000019.4
p.D339fs
c.1015_1016fs
1 paper
NM_000019.4
p.D339delFs
c.1016_1017delAT
1 paper
NM_000019.4
p.D339fs
c.1015_1016fs
1 paper
NM_000019.4
p.D339A
c.1016A>C
1 paper
NM_000019.4
p.V340M
c.1018G>A
1 paper
NM_000019.4
p.V340ins1
c.1019_1020insATG
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."