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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AADAC

AADAC

64 papers

RefSeq Summary

Microsomal arylacetamide deacetylase competes against the activity of cytosolic arylamine N-acetyltransferase, which catalyzes one of the initial biotransformation pathways for arylamine and heterocyc...

Pfam Domains

Abhydrolase_3aa 107–278UCSCalpha/beta hydrolase fold

Abhydrolase_3aa 302–377UCSCalpha/beta hydrolase fold

Gene Aliases

HGNC Name

arylacetamide deacetylase

HGNC Alias Symbols

DAC; CES5A1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 51 variants

8 papers

chr3:151827813 G>A

NM_001086.3

p.V281I

c.841G>A

Exome: 77.1% (AC=1125970, hom=437806)Genome: 75.7% (AC=114919, hom=43880)67 overlapping SVs

7 papers

chr3:151828170 T>C

NM_001086.3

p.*400Q

c.1198T>C

Exome: 0.6% (AC=7488, hom=81)Genome: 0.4% (AC=543, hom=8)67 overlapping SVs

3 papers

chr3:151827716 A>C

NM_001086.3

p.R248S

c.744A>C

Abhydrolase_3

exact variant not in gnomAD67 overlapping SVs

3 papers

chr3:151827716 A>T

NM_001086.3

p.R248S

c.744A>T

Abhydrolase_3

Exome: 0.0% (AC=119, hom=0)Genome: 0.0% (AC=28, hom=0)67 overlapping SVs

3 papers

chr3:151828070 C>A

NM_001086.3

p.N366K

c.1098C>A

Abhydrolase_3

Exome: 0.0% (AC=5, hom=0)Genome: n/a67 overlapping SVs

3 papers

chr3:151828070 C>G

NM_001086.3

p.N366K

c.1098C>G

Abhydrolase_3

Exome: 0.0% (AC=724, hom=10)Genome: 0.1% (AC=102, hom=0)67 overlapping SVs

2 papers

chr3:151817447 A>G

NM_001086.3

p.T74A

c.220A>G

Exome: 0.1% (AC=1310, hom=21)Genome: 0.2% (AC=253, hom=10)68 overlapping SVs

2 papers

chr3:151817465 A>G

NM_001086.3

p.T80A

c.238A>G

exact variant not in gnomAD68 overlapping SVs

2 papers

chr3:151817589 G>A

NM_001086.3

p.A121Splc

c.361+1G>A

Exome: 0.0% (AC=36, hom=1)Genome: 0.0% (AC=6, hom=0)68 overlapping SVs

2 papers

chr3:151824745 G>A

NM_001086.3

p.V172I

c.514G>A

Abhydrolase_3

Exome: 0.1% (AC=1104, hom=18)Genome: 0.9% (AC=1302, hom=25)70 overlapping SVs

2 papers

chr3:151827775 A>G

NM_001086.3

p.Q268R

c.803A>G

Abhydrolase_3

exact variant not in gnomAD67 overlapping SVs

1 paper

chr3:151814173 A>T

NM_001086.3

p.K4I

c.11A>T

exact variant not in gnomAD68 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."