Varaico: Literature-Extracted Genetic Variants

Gene:HMOX1
Variant:p.R44*

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
Selected Variant
9 papers
NM_002133.3
p.R44*
c.130C>T
Surrounding Variants
1 paper
NM_002133.3
p.R44Q
c.131G>A
1 paper
NM_002133.3
p.T43I
c.128C>T
1 paper
NM_002133.3
p.D45N
c.133G>A
1 paper
NM_002133.3
p.D45Y
c.133G>T
1 paper
NM_002133.3
p.D45G
c.134A>G
1 paper
NM_002133.3
p.D45E
c.135C>A
1 paper
NM_002133.3
p.D45E
c.135C>G
1 paper
NM_002133.3
p.G46S
c.136G>A
1 paper
NM_002133.3
p.Q41H
c.123G>C
1 paper
NM_002133.3
p.Q41H
c.123G>T
1 paper
NM_002133.3
p.Q41R
c.122A>G
1 paper
NM_002133.3
p.F47L
c.139T>C
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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."