Varaico: Literature-Extracted Genetic Variants

Gene:ACAA2
Variant:p.G118_T119Fs

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.G118_T119Fs
c.354_355delinsGFs
Surrounding Variants
1 paper
NM_006111.3
p.G118E
c.353G>A
1 paper
NM_006111.3
p.M122T
c.365T>C
2 papers
NM_006111.3
p.A125S
c.373G>T
1 paper
NM_006111.3
p.A125G
c.374C>G
1 paper
NM_006111.3
p.E112D
c.336A>T
1 paper
NM_006111.3
p.E112D
c.336A>C
1 paper
NM_006111.3
p.Y127F
c.380A>T
1 paper
NM_006111.3
p.C107Y
c.320G>A
1 paper
NM_006111.3
p.F134S
c.401T>C
1 paper
NM_006111.3
p.Q158R
c.473A>G
1 paper
NM_006111.3
p.P160A
c.478C>G
1 paper
NM_006111.3
p.M161T
c.482T>C
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