Varaico: Literature-Extracted Genetic Variants

Gene:ACY1
Variant:p.Q120Fs

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.Q120Fs
c.358delinsAGFs
Surrounding Variants
1 paper
NM_000666.3
p.Q120insFs
c.358_359insG
1 paper
NM_000666.3
p.Q120insFs
c.359_360insG
1 paper
NM_000666.3
p.C116F
c.347G>T
1 paper
NM_000666.3
p.C116insFs
c.347dupG
1 paper
NM_000666.3
p.D113A
c.338A>C
1 paper
NM_000666.3
p.A111V
c.332C>T
1 paper
NM_000666.3
p.R109G
c.325A>G
1 paper
NM_000666.3
p.E103D
c.309G>C
1 paper
NM_000666.3
p.E103D
c.309G>T
1 paper
NM_000666.3
p.F99S
c.296T>C
1 paper
NM_000666.3
p.A98A
c.294C>A
1 paper
NM_000666.3
p.Q120Splc
c.360-1G>A
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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."