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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HMOX2

HMOX2

64 papers

RefSeq Summary

Heme oxygenase, an essential enzyme in heme catabolism, cleaves heme to form biliverdin, which is subsequently converted to bilirubin by biliverdin reductase, and carbon monoxide, a putative neurotran...

Pfam Domains

Heme_oxygenaseaa 31–236UCSCHeme oxygenase

Gene Aliases

HGNC Name

heme oxygenase 2

HGNC Alias Symbol

HO-2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 42 variants

2 papers

chr16:4507777 A>T

NM_002134.4

p.D90V

c.269A>T

Heme_oxygenase

exact variant not in gnomAD3 overlapping SVs

2 papers

chr16:4507945 C>T

NM_002134.4

p.P146L

c.437C>T

Heme_oxygenase

Exome: 0.0% (AC=35, hom=0)Genome: 0.0% (AC=1, hom=0)3 overlapping SVs

2 papers

chr16:4508052 G>A

NM_002134.4

p.E182K

c.544G>A

Heme_oxygenase

Exome: n/aGenome: 0.0% (AC=1, hom=0)3 overlapping SVs

2 papers

chr16:4509520 G>A

NM_002134.4

p.A269T

c.805G>A

Exome: 0.0% (AC=6, hom=0)Genome: 0.0% (AC=2, hom=0)3 overlapping SVs

2 papers

chr16:4509658 C>T

NM_002134.4

p.R285*

c.853C>T

Exome: 0.0% (AC=510, hom=5)Genome: 0.0% (AC=64, hom=0)3 overlapping SVs

1 paper

chr16:4505532 C>T

NM_002134.4

p.A3V

c.8C>T

Exome: 0.0% (AC=43, hom=0)Genome: 0.0% (AC=3, hom=0)3 overlapping SVs

1 paper

chr16:4505533 G>A

NM_002134.4

p.A3A

c.9G>A

Exome: 0.1% (AC=1988, hom=2)Genome: 0.1% (AC=164, hom=1)3 overlapping SVs

1 paper

chr16:4505589 T>C

NM_002134.4

p.L22P

c.65T>C

Exome: 0.0% (AC=0, hom=0)Genome: n/a3 overlapping SVs

1 paper

chr16:4506926 G>A

NM_002134.4

p.G40R

c.118G>A

Heme_oxygenase

exact variant not in gnomAD3 overlapping SVs

1 paper

chr16:4506926 G>C

NM_002134.4

p.G40R

c.118G>C

Heme_oxygenase

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)3 overlapping SVs

1 paper

chr16:4506959 A>G

NM_002134.4

p.T51A

c.151A>G

Heme_oxygenase

Exome: 0.0% (AC=20, hom=0)Genome: 0.0% (AC=1, hom=0)3 overlapping SVs

1 paper

chr16:4507767 C>T

NM_002134.4

p.R87C

c.259C>T

Heme_oxygenase

Exome: 0.0% (AC=293, hom=0)Genome: 0.0% (AC=23, hom=0)3 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."