Varaico: Literature-Extracted Genetic Variants

Gene:ACAA1
Variant:p.T253_E255del3

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.T253_E255del3
c.757_764del9
Surrounding Variants
1 paper
NM_001607.4
p.M254_G256del3
c.760_767del9
1 paper
NM_001607.4
p.T252_T253del1
c.756_758delGTG
1 paper
NM_001607.4
p.A258V
c.773C>T
1 paper
NM_001607.4
p.T252I
c.755C>T
1 paper
NM_001607.4
p.K259_L260insFs
c.777_778insT
3 papers
NM_001607.4
p.T252insFs
c.754_755insCT
1 paper
NM_001607.4
p.K261delFs
c.782delT
1 paper
NM_001607.4
p.T243_Q244insFs
c.729_730insTT
1 paper
NM_001607.4
p.S269F
c.806C>T
1 paper
NM_001607.4
p.S269S
c.807T>G
1 paper
NM_001607.4
p.T241insFs
c.721dupA
1 paper
NM_001607.4
p.G273delFs
c.817delC
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