Varaico: Literature-Extracted Genetic Variants

Gene:COQ6
Variant:p.T96del1

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.T96del1
c.286_288delACG
Surrounding Variants
1 paper
NM_182476.3
p.L98fs
c.292_293fs
1 paper
NM_182476.3
p.I90V
c.268A>G
2 papers
NM_182476.3
p.Y83*
c.249C>A
2 papers
NM_182476.3
p.Y83*
c.249C>G
1 paper
NM_182476.3
p.P72L
c.215C>T
1 paper
NM_182476.3
p.G71V
c.212G>T
1 paper
NM_182476.3
p.L68L
c.204C>T
1 paper
NM_182476.3
p.L67S
c.200T>C
5 papers
NM_182476.3
p.K64del1
c.190_191delAAA
6 papers
NM_182476.3
p.K63_K64del1
c.189_191delGAA
1 paper
NM_182476.3
p.I58T
c.173T>C
1 paper
NM_182476.3
p.G55Splc
c.164-11C>T
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