Varaico: Literature-Extracted Genetic Variants

Gene:DHODH
Variant:p.R244W

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
7 papers
NM_001361.5
p.R244W
c.730C>T
Surrounding Variants
1 paper
NM_001361.5
p.R245_D258del14
c.733_773del42
4 papers
NM_001361.5
p.R248_S261del14
c.742_782del42
1 paper
NM_001361.5
p.R248W
c.742A>T
1 paper
NM_001361.5
p.P249P
c.747G>A
1 paper
NM_001361.5
p.A250G
c.749C>G
1 paper
NM_001361.5
p.K235_V236Splc
c.706-1G>T
1 paper
NM_001361.5
p.I267L
c.799A>C
1 paper
NM_001361.5
p.K272R
c.815A>G
3 papers
NM_001361.5
p.E273_L274Splc
c.819+5G>A
1 paper
NM_001361.5
p.E273_L274Splc
c.820-9G>A
1 paper
NM_001361.5
p.L274L
c.822G>A
2 papers
NM_001361.5
p.D277N
c.829G>A
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