Varaico: Literature-Extracted Genetic Variants

Gene:ACAA1
Variant:p.S17S

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
2 papers
NM_001607.4
p.S17S
c.51C>G
Surrounding Variants
1 paper
NM_001607.4
p.V7L
c.19G>T
1 paper
NM_001607.4
p.V7L
c.19G>C
1 paper
NM_001607.4
p.G29S
c.85G>A
1 paper
NM_001607.4
p.S28delFs
c.83_84delGC
2 papers
NM_001607.4
p.G43R
c.127G>C
2 papers
NM_001607.4
p.G43R
c.127G>A
1 paper
NM_001607.4
p.R44L
c.131G>T
1 paper
NM_001607.4
p.I48delFs
c.142_143delAT
1 paper
NM_001607.4
p.A51G
c.152C>G
3 papers
NM_001607.4
p.R53H
c.158G>A
1 paper
NM_001607.4
p.D62insFs
c.185_186insA
1 paper
NM_001607.4
p.L65P
c.194T>C
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