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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PET100

PET100

24 papers

RefSeq Summary

Mitochondrial complex IV, or cytochrome c oxidase, is a large transmembrane protein complex that is part of the respiratory electron transport chain of mitochondria. The small protein encoded by this ...

Pfam Domains

Pet100aa 1–69UCSCPet100

Gene Aliases

HGNC Name

PET100 cytochrome c oxidase chaperone

HGNC Previous Symbol

C19orf79

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

9 papers

chr19:7629836 G>C

NM_001171155.2

p.M1I

c.3G>C

Pet100

Exome: 0.0% (AC=11, hom=0)Genome: n/a10 overlapping SVs

2 papers

chr19:7629836 G>A

NM_001171155.2

p.M1I

c.3G>A

Pet100

Exome: 0.0% (AC=0, hom=0)Genome: n/a10 overlapping SVs

2 papers

chr19:7629836 G>T

NM_001171155.2

p.M1I

c.3G>T

Pet100

exact variant not in gnomAD10 overlapping SVs

2 papers

chr19:7631476 C>T

NM_001171155.2

p.Q48*

c.142C>T

Pet100

Exome: 0.0% (AC=2, hom=0)Genome: n/a9 overlapping SVs

1 paper

chr19:7629834 A>G

NM_001171155.2

p.M1V

c.1A>G

Pet100

Exome: 0.0% (AC=12, hom=0)Genome: 0.0% (AC=1, hom=0)10 overlapping SVs

1 paper

chr19:7629844 A>T

NM_001171155.2

p.K4M

c.11A>T

Pet100

exact variant not in gnomAD10 overlapping SVs

1 paper

chr19:7630849 A>T

NM_001171155.2

p.K46_L47Splc

c.138+3A>T

Exome: 0.0% (AC=63, hom=0)Genome: 0.0% (AC=11, hom=0)11 overlapping SVs

1 paper

chr19:7631513 G>C

NM_001171155.2

p.R60P

c.179G>C

Pet100

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=2, hom=0)9 overlapping SVs

1 paper

chr19:7631533 C>T

NM_001171155.2

p.R67C

c.199C>T

Pet100

Exome: 0.4% (AC=5502, hom=162)Genome: 0.8% (AC=1151, hom=34)9 overlapping SVs

1 paper

chr19:7631554 T>C

NM_001171155.2

p.*74R

c.220T>C

Exome: 0.0% (AC=0, hom=0)Genome: n/a9 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."