Varaico: Literature-Extracted Genetic Variants

Gene:ACY3

ACY3

39 papers

Pfam Domains

AstE_AspA_cataa 10–206UCSCSuccinylglutamate desuccinylase/Aspartoacylase catalytic domain
AstE_AspA_hybridaa 218–300UCSCAstE/AspA barrel-sandwich hybrid domain

Gene Aliases

HGNC Name

aminoacylase 3

HGNC Alias Symbols

HCBP1; MGC9740; ACY-3; ASPA2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 40 variants
3 papers
NM_080658.2
p.V28I
c.82G>A
2 papers
NM_080658.2
p.E149K
c.445G>A
2 papers
NM_080658.2
p.R188W
c.562C>T
2 papers
NM_080658.2
p.A217T
c.649G>A
1 paper
NM_080658.2
p.R8Q
c.23G>A
1 paper
NM_080658.2
p.G19fs
c.55_56fs
1 paper
NM_080658.2
p.G19delFs
c.56delC
1 paper
NM_080658.2
p.S26L
c.77C>T
1 paper
NM_080658.2
p.H33Y
c.97C>T
1 paper
NM_080658.2
p.S45S
c.135C>T
1 paper
NM_080658.2
p.C61S
c.181T>A
1 paper
NM_080658.2
p.C61S
c.182G>C
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