Varaico: Literature-Extracted Genetic Variants

Gene:DHODH
Variant:p.H55_R56delFs

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.H55_R56delFs
c.165_166delCA
Surrounding Variants
3 papers
NM_001361.5
p.H55fs
c.163_164fs
1 paper
NM_001361.5
p.R56S
c.168A>T
9 papers
NM_001361.5
p.E52G
c.155A>G
1 paper
NM_001361.5
p.E52Q
c.154G>C
1 paper
NM_001361.5
p.P51L
c.152C>T
1 paper
NM_001361.5
p.A58T
c.172G>A
1 paper
NM_001361.5
p.D50D
c.150C>T
1 paper
NM_001361.5
p.F61L
c.181T>C
1 paper
NM_001361.5
p.L48Fs
c.143delinsTTFs
1 paper
NM_001361.5
p.L48L
c.142C>T
1 paper
NM_001361.5
p.T62S
c.184A>T
1 paper
NM_001361.5
p.T62S
c.185C>G
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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."