Varaico: Literature-Extracted Genetic Variants

Gene:COQ6

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
1–12 of 138 variants
19 papers
NM_182476.3
p.A353D
c.1058C>A
16 papers
NM_182476.3
p.G255R
c.763G>A
16 papers
NM_182476.3
p.P261L
c.782C>T
15 papers
NM_182476.3
p.G255R
c.763G>C
8 papers
NM_182476.3
p.R162*
c.484C>T
8 papers
NM_182476.3
p.W447*
c.1341G>A
7 papers
NM_182476.3
p.D208H
c.622G>C
7 papers
NM_182476.3
p.R360W
c.1078C>T
7 papers
NM_182476.3
p.W447*
c.1340G>A
6 papers
NM_182476.3
p.K63_K64del1
c.189_191delGAA
6 papers
NM_182476.3
p.Q461delFs
c.1383delG
5 papers
NM_182476.3
p.K64del1
c.190_191delAAA
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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."