Varaico: Literature-Extracted Genetic Variants

Gene:ACAA1
Variant:p.E172D

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
3 papers
NM_001607.4
p.E172D
c.516G>T
Surrounding Variants
3 papers
NM_001607.4
p.E172D
c.516G>C
1 paper
NM_001607.4
p.N160_P161delins
c.479_482delinsAATA
1 paper
NM_001607.4
p.S154_P161Fs
c.462_482delinsTCCTCFs
1 paper
NM_001607.4
p.R158G
c.472A>G
1 paper
NM_001607.4
p.L155P
c.464T>C
1 paper
NM_001607.4
p.S154F
c.461C>T
1 paper
NM_001607.4
p.S152S
c.456C>T
1 paper
NM_001607.4
p.T184_S185delFs
c.552_555del4
1 paper
NM_001607.4
p.G193delFs
c.577delC
1 paper
NM_001607.4
p.K198_Q199insFs
c.594_595insC
1 paper
NM_001607.4
p.Q199K
c.595C>A
5 papers
NM_001607.4
p.Q208*
c.622C>T
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