Varaico: Literature-Extracted Genetic Variants

Gene:ACAA1
Variant:p.G193delFs

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.G193delFs
c.577delC
Surrounding Variants
1 paper
NM_001607.4
p.K198_Q199insFs
c.594_595insC
1 paper
NM_001607.4
p.Q199K
c.595C>A
1 paper
NM_001607.4
p.T184_S185delFs
c.552_555del4
5 papers
NM_001607.4
p.Q208*
c.622C>T
1 paper
NM_001607.4
p.G217D
c.650G>A
1 paper
NM_001607.4
p.F219L
c.655T>C
1 paper
NM_001607.4
p.A221V
c.662C>T
1 paper
NM_001607.4
p.I223I
c.669T>C
1 paper
NM_001607.4
p.P225H
c.674C>A
1 paper
NM_001607.4
p.H231Q
c.693T>G
1 paper
NM_001607.4
p.H231Q
c.693T>A
1 paper
NM_001607.4
p.T241insFs
c.721dupA
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