Varaico: Literature-Extracted Genetic Variants

Gene:DHODH
Variant:p.L204fs

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
2 papers
NM_001361.5
p.L204fs
c.610_611fs
Surrounding Variants
2 papers
NM_001361.5
p.L204delFs
c.611delT
11 papers
NM_001361.5
p.G202D
c.605G>A
14 papers
NM_001361.5
p.G202A
c.605G>C
1 paper
NM_001361.5
p.L204insFs
c.610dupC
1 paper
NM_001361.5
p.L204delFs
c.610delC
1 paper
NM_001361.5
p.G202R
c.604G>C
1 paper
NM_001361.5
p.G202C
c.604G>T
2 papers
NM_001361.5
p.Y207C
c.620A>G
9 papers
NM_001361.5
p.R199C
c.595C>T
1 paper
NM_001361.5
p.V209M
c.625G>A
1 paper
NM_001361.5
p.P215S
c.643C>T
1 paper
NM_001361.5
p.T217I
c.650C>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."