Varaico: Literature-Extracted Genetic Variants

Gene:COQ6
Variant:p.Q417Q

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.Q417Q
c.1251G>A
Surrounding Variants
1 paper
NM_182476.3
p.R418H
c.1253G>A
1 paper
NM_182476.3
p.T421A
c.1261A>G
5 papers
NM_182476.3
p.Y412C
c.1235A>G
4 papers
NM_182476.3
p.V406M
c.1216G>A
1 paper
NM_182476.3
p.K431I
c.1292A>T
1 paper
NM_182476.3
p.L433L
c.1299C>G
3 papers
NM_182476.3
p.P440Q
c.1319C>A
1 paper
NM_182476.3
p.R445S
c.1335G>C
1 paper
NM_182476.3
p.R445S
c.1335G>T
1 paper
NM_182476.3
p.T446M
c.1337C>T
7 papers
NM_182476.3
p.W447*
c.1340G>A
8 papers
NM_182476.3
p.W447*
c.1341G>A
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