Varaico: Literature-Extracted Genetic Variants

Gene:ACAA2
Variant:p.K375R

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
5 papers
NM_006111.3
p.K375R
c.1124A>G
Surrounding Variants
2 papers
NM_006111.3
p.G373insFs
c.1119dupT
1 paper
NM_006111.3
p.A377V
c.1130C>T
1 paper
NM_006111.3
p.G379V
c.1136G>T
1 paper
NM_006111.3
p.G388S
c.1162G>A
1 paper
NM_006111.3
p.G388V
c.1163G>T
2 papers
NM_006111.3
p.I389V
c.1165A>G
1 paper
NM_006111.3
p.S395N
c.1184G>A
1 paper
NM_006111.3
p.R370Splc
c.1110-57A>G
1 paper
NM_006111.3
p.N344S
c.1031A>G
1 paper
NM_006111.3
p.V330insFs
c.990dupT
1 paper
NM_006111.3
p.E321K
c.961G>A
1 paper
NM_006111.3
p.E318D
c.954G>T
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