Varaico: Literature-Extracted Genetic Variants

Gene:DHODH
Variant:p.L354P

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.L354P
c.1061T>C
Surrounding Variants
1 paper
NM_001361.5
p.Q353E
c.1057C>G
2 papers
NM_001361.5
p.T356M
c.1067C>T
6 papers
NM_001361.5
p.A357T
c.1069G>A
1 paper
NM_001361.5
p.L358F
c.1072C>T
1 paper
NM_001361.5
p.T359S
c.1075A>T
1 paper
NM_001361.5
p.T359N
c.1076C>A
1 paper
NM_001361.5
p.T359S
c.1076C>G
1 paper
NM_001361.5
p.F360C
c.1079T>G
5 papers
NM_001361.5
p.A347T
c.1039G>A
1 paper
NM_001361.5
p.W361C
c.1083G>C
1 paper
NM_001361.5
p.W361C
c.1083G>T
1 paper
NM_001361.5
p.G362R
c.1084G>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."