Varaico: Literature-Extracted Genetic Variants

Gene:COQ9
Variant:p.K288N

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
2 papers
NM_020312.4
p.K288N
c.864G>T
Surrounding Variants
2 papers
NM_020312.4
p.K288N
c.864G>C
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
1 paper
NM_020312.4
p.M281V
c.841A>G
2 papers
NM_020312.4
p.D279N
c.835G>A
2 papers
NM_020312.4
p.R276W
c.826C>T
1 paper
NM_020312.4
p.R271H
c.812G>A
2 papers
NM_020312.4
p.R271C
c.811C>T
1 paper
NM_020312.4
p.T269S
c.806C>G
1 paper
NM_020312.4
p.S262_P264del3
c.784_791del9
1 paper
NM_020312.4
p.R244Q
c.731G>A
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