Varaico: Literature-Extracted Genetic Variants

Gene:DHODH
Variant:p.D392G

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
9 papers
NM_001361.5
p.D392G
c.1175A>G
Surrounding Variants
1 paper
NM_001361.5
p.H393R
c.1178A>G
1 paper
NM_001361.5
p.I389I
c.1167T>C
1 paper
NM_001361.5
p.I389T
c.1166T>C
1 paper
NM_001361.5
p.G381S
c.1141G>A
1 paper
NM_001361.5
p.A375P
c.1123G>C
1 paper
NM_001361.5
p.A375S
c.1123G>T
1 paper
NM_001361.5
p.R371Q
c.1112G>A
1 paper
NM_001361.5
p.P364T
c.1090C>A
1 paper
NM_001361.5
p.G362R
c.1084G>A
1 paper
NM_001361.5
p.G362R
c.1084G>C
1 paper
NM_001361.5
p.W361C
c.1083G>C
1 paper
NM_001361.5
p.W361C
c.1083G>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."