Varaico: Literature-Extracted Genetic Variants

Gene:COQ6
Variant:p.L348F

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.L348F
c.1042C>T
Surrounding Variants
1 paper
NM_182476.3
p.V344A
c.1031T>C
1 paper
NM_182476.3
p.R343Q
c.1028G>A
19 papers
NM_182476.3
p.A353D
c.1058C>A
1 paper
NM_182476.3
p.K341N
c.1023A>C
1 paper
NM_182476.3
p.K341N
c.1023A>T
3 papers
NM_182476.3
p.D339V
c.1016A>T
1 paper
NM_182476.3
p.D339N
c.1015G>A
1 paper
NM_182476.3
p.D339H
c.1015G>C
1 paper
NM_182476.3
p.V338M
c.1012G>A
3 papers
NM_182476.3
p.R337G
c.1009A>G
7 papers
NM_182476.3
p.R360W
c.1078C>T
1 paper
NM_182476.3
p.A362V
c.1085C>T
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