Varaico: Literature-Extracted Genetic Variants

Gene:DHODH
Variant:p.G152R

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
11 papers
NM_001361.5
p.G152R
c.454G>A
Surrounding Variants
10 papers
NM_001361.5
p.G152R
c.454G>C
1 paper
NM_001361.5
p.L153I
c.457C>A
1 paper
NM_001361.5
p.V156insFs
c.467_468insT
1 paper
NM_001361.5
p.V156E
c.467T>A
1 paper
NM_001361.5
p.H158D
c.472C>G
1 paper
NM_001361.5
p.Y146H
c.436T>C
1 paper
NM_001361.5
p.R145S
c.435G>C
1 paper
NM_001361.5
p.R145Splc
c.435-2A>G
1 paper
NM_001361.5
p.Q165_K166del2
c.493_497del6
1 paper
NM_001361.5
p.Q165R
c.494A>G
1 paper
NM_001361.5
p.A168T
c.502G>A
1 paper
NM_001361.5
p.E172K
c.514G>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."