Varaico: Literature-Extracted Genetic Variants

Gene:ACAA1
Variant:p.V373insFs

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.V373insFs
c.1119dupG
Surrounding Variants
1 paper
NM_001607.4
p.P378S
c.1132C>T
1 paper
NM_001607.4
p.L369delFs
c.1105delG
1 paper
NM_001607.4
p.V387I
c.1159G>A
4 papers
NM_001607.4
p.V387A
c.1160T>C
2 papers
NM_001607.4
p.T389A
c.1165A>G
1 paper
NM_001607.4
p.T389M
c.1166C>T
1 paper
NM_001607.4
p.L359V
c.1075C>G
1 paper
NM_001607.4
p.L391F
c.1171C>T
1 paper
NM_001607.4
p.N392I
c.1175A>T
3 papers
NM_001130410.2
p.N299S
c.896A>G
NM_001607.4
p.N392S
c.1175A>G
1 paper
NM_001607.4
p.R396H
c.1187G>A
1 paper
NM_001607.4
p.Q351_A352Splc
c.1054-2A>C
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