Varaico: Literature-Extracted Genetic Variants

Gene:DHODH
Variant:p.L83fs

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.L83fs
c.247_248fs
Surrounding Variants
1 paper
NM_001361.5
p.L83fs
c.247_248fs
1 paper
NM_001361.5
p.V82fs
c.244_245fs
6 papers
NM_001361.5
p.L83_F87delFs
c.248_261del14
1 paper
NM_001361.5
p.R81delFs
c.243delA
1 paper
NM_001361.5
p.V80M
c.238G>A
1 paper
NM_001361.5
p.E79K
c.235G>A
2 papers
NM_001361.5
p.E79_R88delFs
c.236_264del29
1 paper
NM_001361.5
p.R88*
c.262C>T
1 paper
NM_001361.5
p.R88Q
c.263G>A
1 paper
NM_001361.5
p.I93insFs
c.278dupT
2 papers
NM_001361.5
p.F97I
c.289T>A
1 paper
NM_001361.5
p.H100Y
c.298C>T
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