Varaico: Literature-Extracted Genetic Variants

Gene:DHODH

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
1–12 of 175 variants
27 papers
NM_001361.5
p.R135C
c.403C>T
18 papers
NM_001361.5
p.R346W
c.1036C>T
14 papers
NM_001361.5
p.G202A
c.605G>C
11 papers
NM_001361.5
p.G152R
c.454G>A
11 papers
NM_001361.5
p.G202D
c.605G>A
10 papers
NM_001361.5
p.G152R
c.454G>C
9 papers
NM_001361.5
p.G19E
c.56G>A
9 papers
NM_001361.5
p.E52G
c.155A>G
9 papers
NM_001361.5
p.R199C
c.595C>T
9 papers
NM_001361.5
p.D392G
c.1175A>G
8 papers
NM_001361.5
p.A341V
c.1022C>T
7 papers
NM_001361.5
p.R244W
c.730C>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."