Varaico: Literature-Extracted Genetic Variants

Gene:ACAA1
Variant:p.L83_G84del2

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.L83_G84del2
c.247_251del6
Surrounding Variants
1 paper
NM_001607.4
p.G84R
c.250G>C
1 paper
NM_001607.4
p.G84R
c.250G>A
1 paper
NM_001607.4
p.D85del1
c.253_255delGTC
1 paper
NM_001607.4
p.D85_I86del1
c.254_256delTGT
1 paper
NM_001607.4
p.P80L
c.239C>T
1 paper
NM_001607.4
p.A71A
c.213G>A
1 paper
NM_001607.4
p.L65P
c.194T>C
1 paper
NM_001607.4
p.D62insFs
c.185_186insA
3 papers
NM_001607.4
p.R53H
c.158G>A
1 paper
NM_001607.4
p.A51G
c.152C>G
1 paper
NM_001607.4
p.I48delFs
c.142_143delAT
1 paper
NM_001607.4
p.R44L
c.131G>T
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