Varaico: Literature-Extracted Genetic Variants

Gene:DHODH
Variant:p.R288C

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.R288C
c.862C>T
Surrounding Variants
1 paper
NM_001361.5
p.A290V
c.869C>T
1 paper
NM_001361.5
p.T285S
c.854C>G
1 paper
NM_001361.5
p.T285S
c.853A>T
3 papers
NM_001361.5
p.T284I
c.851C>T
1 paper
NM_001361.5
p.T284A
c.850A>G
1 paper
NM_001361.5
p.G294C
c.880G>T
2 papers
NM_001361.5
p.R297H
c.890G>A
2 papers
NM_001361.5
p.G278E
c.833G>A
1 paper
NM_001361.5
p.D277G
c.830A>G
2 papers
NM_001361.5
p.D277N
c.829G>A
1 paper
NM_001361.5
p.L274L
c.822G>A
1 paper
NM_001361.5
p.E273_L274Splc
c.820-9G>A
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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."