Varaico: Literature-Extracted Genetic Variants

Gene:ACAA2
Variant:p.R14L

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.R14L
c.41G>T
Surrounding Variants
1 paper
NM_006111.3
p.T15A
c.43A>G
2 papers
NM_006111.3
p.T15M
c.44C>T
1 paper
NM_006111.3
p.K13R
c.38A>G
1 paper
NM_006111.3
p.P16R
c.47C>G
1 paper
NM_006111.3
p.V10delFs
c.29delA
1 paper
NM_006111.3
p.G21R
c.61G>C
1 paper
NM_006111.3
p.G21R
c.61G>A
1 paper
NM_006111.3
p.G6D
c.17G>A
1 paper
NM_006111.3
p.T28delFs
c.83_84delAG
1 paper
NM_006111.3
p.F35L
c.103T>C
1 paper
NM_006111.3
p.F35L
c.105T>G
1 paper
NM_006111.3
p.F35L
c.105T>A
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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."