Varaico: Literature-Extracted Genetic Variants

Gene:COQ9
Variant:p.Q152H

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.Q152H
c.456G>C
Surrounding Variants
1 paper
NM_020312.4
p.H148P
c.443A>C
1 paper
NM_020312.4
p.L145V
c.433C>G
1 paper
NM_020312.4
p.E162G
c.485A>G
1 paper
NM_020312.4
p.V168A
c.503T>C
1 paper
NM_020312.4
p.Q169E
c.505C>G
1 paper
NM_020312.4
p.A135V
c.404C>T
1 paper
NM_020312.4
p.A134V
c.401C>T
1 paper
NM_020312.4
p.A173S
c.517G>T
6 papers
NM_020312.4
p.E174Splc
c.521+2T>C
4 papers
NM_020312.4
p.G129fs
c.385_386fs
5 papers
NM_020312.4
p.L128delFs
c.384delG
1 paper
NM_020312.4
p.Q126_S127Splc
c.379-16G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."