Varaico: Literature-Extracted Genetic Variants

Gene:ACAA1
Variant:p.R289Q

ACAA1

111 papers

RefSeq Summary

This gene encodes an enzyme operative in the beta-oxidation system of the peroxisomes. Deficiency of this enzyme leads to pseudo-Zellweger syndrome. Alternative splicing results in multiple transcript...

Pfam Domains

Thiolase_Naa 38–291UCSCThiolase, N-terminal domain
Thiolase_Caa 298–421UCSCThiolase, C-terminal domain

Gene Aliases

HGNC Name

acetyl-CoA acyltransferase 1

HGNC Alias Symbol

Lnc-Myd88

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001607.4
p.R289Q
c.866G>A
Surrounding Variants
1 paper
NM_001607.4
p.R289W
c.865C>T
1 paper
NM_001607.4
p.A288A
c.864C>T
1 paper
NM_001607.4
p.A283T
c.847G>A
1 paper
NM_001607.4
p.D280insFs
c.838dupG
1 paper
NM_001607.4
p.L301R
c.902T>G
1 paper
NM_001607.4
p.Q277*
c.829C>T
1 paper
NM_001607.4
p.V303I
c.907G>A
1 paper
NM_001607.4
p.V310L
c.928G>C
1 paper
NM_001607.4
p.P314R
c.941C>G
1 paper
NM_001607.4
p.G318S
c.952G>A
1 paper
NM_001607.4
p.G320R
c.958G>C
1 paper
NM_001607.4
p.G320R
c.958G>A
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