Varaico: Literature-Extracted Genetic Variants

Gene:COQ9
Variant:p.T236A

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.T236A
c.706A>G
Surrounding Variants
1 paper
NM_020312.4
p.T236S
c.706A>T
1 paper
NM_020312.4
p.T236S
c.707C>G
6 papers
NM_020312.4
p.D237_F238Splc
c.711+3G>C
1 paper
NM_020312.4
p.D233Y
c.697G>T
2 papers
NM_020312.4
p.A231S
c.691G>T
1 paper
NM_020312.4
p.M227V
c.679A>G
1 paper
NM_020312.4
p.L217R
c.650T>G
1 paper
NM_020312.4
p.N212N
c.636C>T
2 papers
NM_020312.4
p.L209V
c.625C>G
1 paper
NM_020312.4
p.M208V
c.622A>G
1 paper
NM_020312.4
p.S205N
c.614G>A
18 papers
NM_020312.4
p.R244*
c.730C>T
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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."