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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACY1

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 90 variants

25 papers

chr3:51988821 C>T

NM_000666.3

p.R353C

c.1057C>T

Peptidase_M20

Exome: 0.4% (AC=5266, hom=15)Genome: 0.3% (AC=385, hom=1)61 overlapping SVs

11 papers

chr3:51987188 A>C

NM_000666.3

p.E233D

c.699A>C

Peptidase_M20 M20_dimer

Exome: 0.0% (AC=65, hom=0)Genome: 0.0% (AC=5, hom=0)62 overlapping SVs

11 papers

chr3:51989026 G>A

NM_000666.3

p.R393H

c.1178G>A

Peptidase_M20

Exome: 0.4% (AC=6127, hom=12)Genome: 0.3% (AC=512, hom=1)61 overlapping SVs

10 papers

chr3:51987188 A>T

NM_000666.3

p.E233D

c.699A>T

Peptidase_M20 M20_dimer

exact variant not in gnomAD62 overlapping SVs

7 papers

chr3:51986652 A>AG

NM_000666.3

p.S192insFs

c.575dupG

Peptidase_M20 M20_dimer

Exome: 0.0% (AC=362, hom=0)Genome: 0.0% (AC=21, hom=0)62 overlapping SVs

7 papers

chr3:51989004 C>T

NM_000666.3

p.R386C

c.1156C>T

Peptidase_M20

Exome: 0.1% (AC=1324, hom=6)Genome: 0.5% (AC=753, hom=6)61 overlapping SVs

6 papers

chr3:51986993 C>T

NM_000666.3

p.R197W

c.589C>T

Peptidase_M20 M20_dimer

Exome: 0.0% (AC=28, hom=0)Genome: 0.0% (AC=2, hom=0)62 overlapping SVs

3 papers

chr3:51988910 G>A

NM_000666.3

p.A354_V355Splc

c.1063-1G>A

Peptidase_M20

Exome: 0.0% (AC=42, hom=0)Genome: 0.0% (AC=13, hom=0)61 overlapping SVs

3 papers

chr3:51988980 C>T

NM_000666.3

p.R378W

c.1132C>T

Peptidase_M20

Exome: 0.0% (AC=28, hom=0)Genome: 0.0% (AC=3, hom=0)61 overlapping SVs

3 papers

chr3:51988981 G>A

NM_000666.3

p.R378Q

c.1133G>A

Peptidase_M20

Exome: 0.0% (AC=129, hom=0)Genome: 0.0% (AC=9, hom=0)61 overlapping SVs

3 papers

chr3:51988991 G>C

NM_000666.3

p.E381D

c.1143G>C

Peptidase_M20

exact variant not in gnomAD61 overlapping SVs

2 papers

chr3:51984113 C>T

NM_000666.3

p.R17C

c.49C>T

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=1, hom=0)60 overlapping SVs

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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."