Varaico: Literature-Extracted Genetic Variants

Gene:HMOX1
Variant:p.E127*

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
1 paper
NM_002133.3
p.E127*
c.379G>T
Surrounding Variants
1 paper
NM_002133.3
p.E127K
c.379G>A
1 paper
NM_002133.3
p.E127Q
c.379G>C
1 paper
NM_002133.3
p.P126P
c.378C>T
1 paper
NM_002133.3
p.E125D
c.375G>C
1 paper
NM_002133.3
p.E125D
c.375G>T
1 paper
NM_002133.3
p.L128Q
c.383T>A
1 paper
NM_002133.3
p.E125G
c.374A>G
1 paper
NM_002133.3
p.E125Q
c.373G>C
1 paper
NM_002133.3
p.T124I
c.371C>T
1 paper
NM_002133.3
p.T124P
c.370A>C
1 paper
NM_002133.3
p.T124A
c.370A>G
1 paper
NM_002133.3
p.V130L
c.388G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."