Varaico: Literature-Extracted Genetic Variants

Gene:COQ6
Variant:p.A231S

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.A231S
c.691G>T
Surrounding Variants
4 papers
NM_182476.3
p.Q229P
c.686A>C
1 paper
NM_182476.3
p.T235N
c.704C>A
1 paper
NM_182476.3
p.R215W
c.643C>T
1 paper
NM_182476.3
p.G213R
c.637G>A
1 paper
NM_182476.3
p.G213R
c.637G>C
1 paper
NM_182476.3
p.S212S
c.636C>T
1 paper
NM_182476.3
p.S212C
c.635C>G
1 paper
NM_182476.3
p.N211S
c.632A>G
7 papers
NM_182476.3
p.D208H
c.622G>C
1 paper
NM_182476.3
p.T242_N245delFs
c.726_735del10
1 paper
NM_182476.3
p.S254P
c.760T>C
16 papers
NM_182476.3
p.G255R
c.763G>A
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