Varaico: Literature-Extracted Genetic Variants

Gene:COQ9
Variant:p.Q299*

COQ9

77 papers

RefSeq Summary

This locus represents a mitochondrial ubiquinone biosynthesis gene. The encoded protein is likely necessary for biosynthesis of coenzyme Q10, as mutations at this locus have been associated with autos...

Pfam Domains

COQ9_Naa 96–126UCSCUbiquinone biosynthesis protein COQ9, N-terminal domain
COQ9aa 213–284UCSCCOQ9

Gene Aliases

HGNC Name

coenzyme Q9

HGNC Previous Symbol

C16orf49

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_020312.4
p.Q299*
c.895C>T
Surrounding Variants
1 paper
NM_020312.4
p.L301F
c.901C>T
1 paper
NM_020312.4
p.G294V
c.881G>T
1 paper
NM_020312.4
p.A304V
c.911C>T
1 paper
NM_020312.4
p.A305S
c.913G>T
1 paper
NM_020312.4
p.S292F
c.875C>T
1 paper
NM_020312.4
p.T307_L308Splc
c.921+11C>A
1 paper
NM_020312.4
p.T307_L308Splc
c.921+13C>T
2 papers
NM_020312.4
p.K288N
c.864G>C
2 papers
NM_020312.4
p.K288N
c.864G>T
2 papers
NM_020312.4
p.M283I
c.849G>A
1 paper
NM_020312.4
p.M283I
c.849G>C
2 papers
NM_020312.4
p.M283I
c.849G>T
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