Varaico: Literature-Extracted Genetic Variants

Gene:COQ9
Variant:p.G124V

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
1 paper
NM_020312.4
p.G124V
c.371G>T
Surrounding Variants
2 papers
NM_020312.4
p.I121T
c.362T>C
1 paper
NM_020312.4
p.G115R
c.343G>C
1 paper
NM_020312.4
p.H114H
c.342C>T
1 paper
NM_020312.4
p.A113V
c.338C>T
1 paper
NM_020312.4
p.A113T
c.337G>A
1 paper
NM_020312.4
p.P112P
c.336C>T
1 paper
NM_020312.4
p.V111A
c.332T>C
2 papers
NM_020312.4
p.L108R
c.323T>G
1 paper
NM_020312.4
p.T105T
c.315G>A
1 paper
NM_020312.4
p.T105M
c.314C>T
1 paper
NM_020312.4
p.I103_V111del9
c.307_332del27
2 papers
NM_020312.4
p.R102H
c.305G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."