Varaico: Literature-Extracted Genetic Variants

Gene:COQ6
Variant:p.E286_K288del3

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_182476.3
p.E286_K288del3
c.856_863del9
Surrounding Variants
1 paper
NM_182476.3
p.E287K
c.859G>A
1 paper
NM_182476.3
p.L281L
c.843A>G
2 papers
NM_182476.3
p.L269fs
c.805_806fs
5 papers
NM_182476.3
p.S268delFs
c.804delC
1 paper
NM_182476.3
p.S263*
c.788C>A
1 paper
NM_182476.3
p.S263*
c.788C>G
16 papers
NM_182476.3
p.P261L
c.782C>T
1 paper
NM_182476.3
p.P256T
c.766C>A
16 papers
NM_182476.3
p.G255R
c.763G>A
15 papers
NM_182476.3
p.G255R
c.763G>C
1 paper
NM_182476.3
p.S254P
c.760T>C
1 paper
NM_182476.3
p.T242_N245delFs
c.726_735del10
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."