Varaico: Literature-Extracted Genetic Variants

Gene:ACAA1

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
1–12 of 100 variants
5 papers
NM_001607.4
p.Q208*
c.622C>T
4 papers
NM_001607.4
p.V387A
c.1160T>C
3 papers
NM_001607.4
p.R53H
c.158G>A
3 papers
NM_001607.4
p.E172D
c.516G>T
3 papers
NM_001607.4
p.E172D
c.516G>C
3 papers
NM_001607.4
p.T252insFs
c.754_755insCT
2 papers
NM_001607.4
p.S17S
c.51C>G
2 papers
NM_001607.4
p.G43R
c.127G>C
2 papers
NM_001607.4
p.G43R
c.127G>A
2 papers
NM_001607.4
p.G333R
c.997G>C
2 papers
NM_001607.4
p.V373insFs
c.1119dupG
2 papers
NM_001607.4
p.T389A
c.1165A>G
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