Varaico: Literature-Extracted Genetic Variants

Gene:ACAA2
Variant:p.I261delFs

ACAA2

106 papers

RefSeq Summary

The encoded protein catalyzes the last step of the mitochondrial fatty acid beta-oxidation spiral. Unlike most mitochondrial matrix proteins, it contains a non-cleavable amino-terminal targeting signa...

Pfam Domains

Thiolase_Naa 7–266UCSCThiolase, N-terminal domain
Thiolase_Caa 273–395UCSCThiolase, C-terminal domain

Gene Aliases

HGNC Name

acetyl-CoA acyltransferase 2

HGNC Alias Symbol

DSAEC

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006111.3
p.I261delFs
c.782delA
Surrounding Variants
1 paper
NM_006111.3
p.A259_V260insFs
c.777_778insT
1 paper
NM_006111.3
p.S264N
c.791G>A
1 paper
NM_006111.3
p.A254_G256del3
c.760_767del9
2 papers
NM_006111.3
p.A267T
c.799G>A
1 paper
NM_006111.3
p.V253_D255del3
c.757_764del9
1 paper
NM_006111.3
p.D255G
c.764A>G
1 paper
NM_006111.3
p.G252_V253del1
c.756_758delACA
1 paper
NM_006111.3
p.K270R
c.809A>G
1 paper
NM_006111.3
p.H271Y
c.811C>T
4 papers
NM_006111.3
p.G252insFs
c.754_755insCT
1 paper
NM_006111.3
p.N272N
c.816C>T
1 paper
NM_006111.3
p.V280insFs
c.838dupG
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."