Varaico: Literature-Extracted Genetic Variants

Gene:COQ9
Variant:p.P34P

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.P34P
c.102G>A
Surrounding Variants
1 paper
NM_020312.4
p.R35_F37del3
c.103_110del9
1 paper
NM_020312.4
p.P34S
c.100C>T
1 paper
NM_020312.4
p.Q30delFs
c.88delC
5 papers
NM_020312.4
p.R27G
c.79C>G
1 paper
NM_020312.4
p.A26S
c.76G>T
1 paper
NM_020312.4
p.V25Splc
c.74-13G>A
1 paper
NM_020312.4
p.V25Splc
c.74-35G>A
1 paper
NM_020312.4
p.S59S
c.177T>A
1 paper
NM_020312.4
p.Q60*
c.178C>T
1 paper
NM_020312.4
p.H62Y
c.184C>T
2 papers
NM_020312.4
p.H62R
c.185A>G
1 paper
NM_020312.4
p.Q66fs
c.196_197fs
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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."