Varaico: Literature-Extracted Genetic Variants

Gene:COQ4
Variant:p.D68insFs

COQ4

143 papers

RefSeq Summary

This gene encodes a component of the coenzyme Q biosynthesis pathway. Coenzyme Q, an essential component of the electron transport chain, shuttles electrons between complexes I or II to complex III of...

Pfam Domains

Coq4aa 38–258UCSCCoenzyme Q (ubiquinone) biosynthesis protein Coq4

Gene Aliases

HGNC Name

coenzyme Q4

HGNC Alias Symbol

CGI-92

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016035.5
p.D68insFs
c.202_203insA
Surrounding Variants
12 papers
NM_016035.5
p.D68H
c.202G>C
4 papers
NM_016035.5
p.D68Splc
c.202+4A>C
1 paper
NM_016035.5
p.R66Fs
c.198delinsAAFs
6 papers
NM_016035.5
p.R66delins
c.197_198delinsAA
12 papers
NM_016035.5
p.P64S
c.190C>T
1 paper
NM_016035.5
p.N63S
c.188A>G
1 paper
NM_016035.5
p.D68Splc
c.202+20G>A
1 paper
NM_016035.5
p.A57E
c.170C>A
1 paper
NM_016035.5
p.S56S
c.168C>T
9 papers
NM_016035.5
p.G55V
c.164G>T
1 paper
NM_016035.5
p.A54delFs
c.162delC
1 paper
NM_016035.5
p.A53T
c.157G>A
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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."