Varaico: Literature-Extracted Genetic Variants

Gene:HMOX1

HMOX1

338 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 11–216UCSCHeme oxygenase

Gene Aliases

HGNC Name

heme oxygenase 1

HGNC Alias Symbols

bK286B10; HO-1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 511 variants
14 papers
NM_002133.3
p.D7H
c.19G>C
14 papers
NM_002133.3
p.L138Q
c.413T>A
9 papers
NM_002133.3
p.R44*
c.130C>T
8 papers
NM_002133.3
p.A206E
c.617C>A
7 papers
NM_002133.3
p.D140A
c.419A>C
6 papers
NM_002133.3
p.G139V
c.416G>T
5 papers
NM_002133.3
p.F33C
c.98T>G
5 papers
NM_002133.3
p.Q212_L213Splc
c.636+2T>A
4 papers
NM_002133.3
p.G139A
c.416G>C
4 papers
NM_002133.3
p.K204*
c.610A>T
3 papers
NM_002133.3
p.Q5*
c.13C>T
3 papers
NM_002133.3
p.K18M
c.53A>T
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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."