Varaico: Literature-Extracted Genetic Variants

Gene:ACAA2
Variant:p.K214R

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.K214R
c.641A>G
Surrounding Variants
1 paper
NM_006111.3
p.G213*
c.637G>T
2 papers
NM_006111.3
p.M217V
c.649A>G
1 paper
NM_006111.3
p.V219G
c.656T>G
1 paper
NM_006111.3
p.P225H
c.674C>A
1 paper
NM_006111.3
p.T228N
c.683C>A
1 paper
NM_006111.3
p.E230K
c.688G>A
1 paper
NM_006111.3
p.L235I
c.703C>A
1 paper
NM_006111.3
p.K241insFs
c.721dupA
2 papers
NM_006111.3
p.G243E
c.728G>A
1 paper
NM_006111.3
p.G243_T244insFs
c.729_730insTT
4 papers
NM_006111.3
p.G252insFs
c.754_755insCT
1 paper
NM_006111.3
p.G252_V253del1
c.756_758delACA
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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."