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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ADO

ADO

18 papers

RefSeq Summary

Human thiol dioxygenases include cysteine dioxygenase (CDO; MIM 603943) and cysteamine (2-aminoethanethiol) dioxygenase (ADO; EC 1.13.11.19). CDO adds 2 oxygen atoms to free cysteine, whereas ADO adds...

Pfam Domains

PCO_ADOaa 57–268UCSCPCO_ADO

Gene Aliases

HGNC Name

2-aminoethanethiol dioxygenase

HGNC Previous Symbol

C10orf22

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

4 papers

chr10:62805132 G>T

NM_032804.6

p.G25W

c.73G>T

Exome: 37.4% (AC=527384, hom=102259)Genome: 27.9% (AC=42412, hom=7364)29 overlapping SVs

1 paper

chr10:62805152 C>G

NM_032804.6

p.S31S

c.93C>G

Exome: 0.0% (AC=7, hom=0)Genome: n/a29 overlapping SVs

1 paper

chr10:62805153 G>A

NM_032804.6

p.D32N

c.94G>A

Exome: 0.0% (AC=0, hom=0)Genome: n/a29 overlapping SVs

1 paper

chr10:62805173 C>CG

NM_032804.6

p.G38_P39insFs

c.114_115insG

exact variant not in gnomAD29 overlapping SVs

1 paper

chr10:62805174 C>G

NM_032804.6

p.P39A

c.115C>G

Exome: 41.4% (AC=598485, hom=128725)Genome: 31.2% (AC=47439, hom=9099)29 overlapping SVs

1 paper

chr10:62805243 C>T

NM_032804.6

p.R62C

c.184C>T

PCO_ADO

Exome: 0.0% (AC=2, hom=0)Genome: n/a29 overlapping SVs

1 paper

chr10:62805470 C>A

NM_032804.6

p.D137E

c.411C>A

PCO_ADO

Exome: 0.0% (AC=0, hom=0)Genome: n/a30 overlapping SVs

1 paper

chr10:62805534 C>A

NM_032804.6

p.P159T

c.475C>A

PCO_ADO

Exome: 0.0% (AC=9, hom=0)Genome: n/a30 overlapping SVs

1 paper

chr10:62805702 G>A

NM_032804.6

p.D215N

c.643G>A

PCO_ADO

Exome: 0.0% (AC=6, hom=1)Genome: n/a31 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."