Varaico: Literature-Extracted Genetic Variants

Gene:COQ6
Variant:p.A287S

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
1 paper
NM_182480.3
p.A287S
c.859G>T
Surrounding Variants
1 paper
NM_182476.3
p.A310T
c.928G>A
1 paper
NM_182476.3
p.D308Y
c.922G>T
1 paper
NM_182476.3
p.Y316delFs
c.948delT
1 paper
NM_182476.3
p.F306S
c.917T>C
1 paper
NM_182476.3
p.V318D
c.953T>A
1 paper
NM_182476.3
p.D305Y
c.913G>T
1 paper
NM_182476.3
p.T304M
c.911C>T
1 paper
NM_182476.3
p.D300Y
c.898G>T
1 paper
NM_182476.3
p.A328T
c.982G>A
3 papers
NM_182476.3
p.R337G
c.1009A>G
1 paper
NM_182476.3
p.V338M
c.1012G>A
1 paper
NM_182476.3
p.D339N
c.1015G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."