Varaico: Literature-Extracted Genetic Variants

Gene:ACY1
Variant:p.A354_V355Splc

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
3 papers
NM_000666.3
p.A354_V355Splc
c.1063-1G>A
Surrounding Variants
1 paper
NM_000666.3
p.P358_A359insG
c.1072_1076ins3
1 paper
NM_000666.3
p.A359_L360insG
c.1075_1079ins3
1 paper
NM_000666.3
p.S363S
c.1089A>G
1 paper
NM_000666.3
p.R367H
c.1100G>A
2 papers
NM_000666.3
p.P369insFs
c.1105_1106insAC
1 paper
NM_000666.3
p.P369insFs
c.1106_1107insAC
1 paper
NM_000666.3
p.P369fs
c.1105_1106fs
3 papers
NM_000666.3
p.R378W
c.1132C>T
3 papers
NM_000666.3
p.R378Q
c.1133G>A
3 papers
NM_000666.3
p.E381D
c.1143G>C
2 papers
NM_000666.3
p.E381D
c.1143G>T
25 papers
NM_000666.3
p.R353C
c.1057C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."