Varaico: Literature-Extracted Genetic Variants

Gene:COQ2
Variant:p.K363E

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
1 paper
NM_001358921.2
p.K363E
c.1087A>G
Surrounding Variants
1 paper
NM_015697.9
p.K407del1
c.1219_1220delCTT
2 papers
NM_015697.9
p.L402F
c.1206G>T
2 papers
NM_015697.9
p.L402F
c.1206G>C
1 paper
NM_015697.9
p.N401I
c.1202A>T
5 papers
NM_015697.9
p.N401fs
c.1201_1202fs
NM_001358921.2
p.N351fs
c.1051_1052fs
7 papers
NM_001358921.2
p.L349delFs
c.1047delA
NM_015697.9
p.L399delFs
c.1197delA
1 paper
NM_001358921.2
p.I347V
c.1039A>G
1 paper
NM_001358921.2
p.G346V
c.1037G>T
36 papers
NM_001358921.2
p.V343A
c.1028T>C
NM_015697.9
p.V393A
c.1178T>C
5 papers
NM_015697.9
p.G390A
c.1169G>C
NM_001358921.2
p.G340A
c.1019G>C
1 paper
NM_015697.9
p.R387Q
c.1160G>A
19 papers
NM_015697.9
p.R387*
c.1159C>T
NM_001358921.2
p.R337*
c.1009C>T
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