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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACY1

Variant:p.E245A

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

Selected Variant

1 paper

chr3:51987335 A>C

NM_000666.3

p.E245A

c.734A>C

Peptidase_M20 M20_dimer

exact variant not in gnomAD62 overlapping SVs

Surrounding Variants

1 paper

chr3:51987388 A>G

NM_000666.3

p.N263D

c.787A>G

Peptidase_M20 M20_dimer

exact variant not in gnomAD62 overlapping SVs

1 paper

chr3:51987389 A>G

NM_000666.3

p.N263S

c.788A>G

Peptidase_M20 M20_dimer

Exome: 0.0% (AC=2, hom=0)Genome: n/a62 overlapping SVs

2 papers

chr3:51987412 G>A

NM_000666.3

p.A271T

c.811G>A

Peptidase_M20 M20_dimer

Exome: 0.0% (AC=24, hom=0)Genome: 0.0% (AC=1, hom=0)62 overlapping SVs

1 paper

chr3:51987422 A>C

NM_000666.3

p.D274A

c.821A>C

Peptidase_M20 M20_dimer

exact variant not in gnomAD62 overlapping SVs

1 paper

chr3:51987194 G>A

NM_000666.3

p.Q235Q

c.705G>A

Peptidase_M20 M20_dimer

Exome: 0.0% (AC=1, hom=0)Genome: n/a62 overlapping SVs

1 paper

chr3:51987189 T>C

NM_000666.3

p.W234R

c.700T>C

Peptidase_M20 M20_dimer

exact variant not in gnomAD62 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

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

1 paper

chr3:51987163 C>G

NM_000666.3

p.S225C

c.674C>G

Peptidase_M20 M20_dimer

exact variant not in gnomAD62 overlapping SVs

1 paper

chr3:51987029 C>T

NM_000666.3

p.R209C

c.625C>T

Peptidase_M20 M20_dimer

Exome: 0.0% (AC=445, hom=1)Genome: 0.0% (AC=47, hom=0)62 overlapping SVs

2 papers

chr3:51987020 C>A

NM_000666.3

p.H206N

c.616C>A

Peptidase_M20 M20_dimer

exact variant not in gnomAD62 overlapping SVs

1 paper

chr3:51986994 G>A

NM_000666.3

p.R197Q

c.590G>A

Peptidase_M20 M20_dimer

Exome: 0.0% (AC=71, hom=0)Genome: 0.0% (AC=62, hom=0)62 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."