Varaico: Literature-Extracted Genetic Variants

Gene:ACY1
Variant:p.E147Q

ACY1

94 papers

RefSeq Summary

This gene encodes a cytosolic, homodimeric, zinc-binding enzyme that catalyzes the hydrolysis of acylated L-amino acids to L-amino acids and an acyl group, and has been postulated to function in the c...

Pfam Domains

Peptidase_M20aa 76–397UCSCPeptidase family M20/M25/M40
M20_dimeraa 188–302UCSCPeptidase dimerisation domain

Gene Aliases

HGNC Name

aminoacylase 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000666.3
p.E147Q
c.439G>C
Surrounding Variants
2 papers
NM_000666.3
p.E147A
c.440A>C
1 paper
NM_000666.3
p.E147D
c.441G>C
1 paper
NM_000666.3
p.E147D
c.441G>T
1 paper
NM_000666.3
p.E148A
c.443A>C
1 paper
NM_000666.3
p.G151insFs
c.451dupG
1 paper
NM_000666.3
p.G151V
c.452G>T
1 paper
NM_000666.3
p.G154D
c.461G>A
1 paper
NM_000666.3
p.E156A
c.467A>C
1 paper
NM_000666.3
p.R161G
c.481C>G
1 paper
NM_000666.3
p.L173delFs
c.517delC
2 papers
NM_000666.3
p.D174G
c.521A>G
1 paper
NM_000666.3
p.E175A
c.524A>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."