Varaico: Literature-Extracted Genetic Variants

Gene:DHODH
Variant:p.Q140*

DHODH

144 papers

RefSeq Summary

The protein encoded by this gene catalyzes the fourth enzymatic step, the ubiquinone-mediated oxidation of dihydroorotate to orotate, in de novo pyrimidine biosynthesis. This protein is a mitochondria...

Pfam Domains

DHO_dhaa 77–377UCSCDihydroorotate dehydrogenase

Gene Aliases

HGNC Name

dihydroorotate dehydrogenase (quinone)

HGNC Previous Name

dihydroorotate dehydrogenase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001361.5
p.Q140*
c.418C>T
Surrounding Variants
1 paper
NM_001361.5
p.Q140R
c.419A>G
1 paper
NM_001361.5
p.E138A
c.413A>C
1 paper
NM_001361.5
p.E138G
c.413A>G
1 paper
NM_001361.5
p.E138K
c.412G>A
1 paper
NM_001361.5
p.E138Q
c.412G>C
27 papers
NM_001361.5
p.R135C
c.403C>T
1 paper
NM_001361.5
p.R145S
c.435G>C
1 paper
NM_001361.5
p.R145S
c.435G>T
1 paper
NM_001361.5
p.G127V
c.380G>T
1 paper
NM_001361.5
p.I117L
c.349A>C
1 paper
NM_001361.5
p.I117L
c.349A>T
5 papers
NM_001361.5
p.E116V
c.347A>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."