Varaico: Literature-Extracted Genetic Variants

Gene:COQ2
Variant:p.P157S

COQ2

198 papers

RefSeq Summary

This gene encodes an enzyme that functions in the final steps in the biosynthesis of CoQ (ubiquinone), a redox carrier in the mitochondrial respiratory chain and a lipid-soluble antioxidant. This enzy...

Pfam Domains

UbiAaa 89–348UCSCUbiA prenyltransferase family

Gene Aliases

HGNC Name

coenzyme Q2, polyprenyltransferase

HGNC Alias Symbols

CL640; FLJ26072

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
12 papers
NM_015697.9
p.P157S
c.469C>T
NM_001358921.2
p.P107S
c.319C>T
Surrounding Variants
2 papers
NM_001358921.2
p.F106Y
c.317T>A
3 papers
NM_001358921.2
p.W109R
c.325T>A
3 papers
NM_001358921.2
p.W109*
c.326G>A
1 paper
NM_001358921.2
p.M111delFs
c.332delA
2 papers
NM_015697.9
p.L162F
c.484C>T
1 paper
NM_015697.9
p.S163F
c.488C>T
1 paper
NM_001358921.2
p.S113_L114delins
c.338_341delinsG
1 paper
NM_001358921.2
p.G98insFs
c.293dupG
1 paper
NM_015697.9
p.I147T
c.440T>C
4 papers
NM_001358921.2
p.S96insFs
c.288dupC
1 paper
NM_001358921.2
p.W95_S96delFs
c.284_287del4
13 papers
NM_001358921.2
p.S96N
c.287G>A
NM_015697.9
p.S146N
c.437G>A
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