Varaico: Literature-Extracted Genetic Variants

Gene:COQ6
Variant:p.W188*

COQ6

125 papers

RefSeq Summary

The protein encoded by this gene belongs to the ubiH/COQ6 family. It is an evolutionarily conserved monooxygenase required for the biosynthesis of coenzyme Q10 (or ubiquinone), which is an essential c...

Pfam Domains

FAD_binding_3aa 113–242UCSCFAD binding domain
FAD_binding_3aa 254–352UCSCFAD binding domain

Gene Aliases

HGNC Name

coenzyme Q6, monooxygenase

HGNC Alias Symbol

CGI-10

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_182476.3
p.W188*
c.564G>A
Surrounding Variants
3 papers
NM_182476.3
p.W188*
c.563G>A
1 paper
NM_182476.3
p.H190H
c.570T>C
1 paper
NM_182476.3
p.G194C
c.580G>T
1 paper
NM_182476.3
p.A183P
c.547G>C
1 paper
NM_182476.3
p.D195Y
c.583G>T
1 paper
NM_182476.3
p.L203F
c.609G>C
1 paper
NM_182476.3
p.L203F
c.609G>T
1 paper
NM_182476.3
p.I172S
c.515T>G
1 paper
NM_182476.3
p.A171P
c.511G>C
1 paper
NM_182476.3
p.R168K
c.503G>A
8 papers
NM_182476.3
p.R162*
c.484C>T
7 papers
NM_182476.3
p.D208H
c.622G>C
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