Varaico: Literature-Extracted Genetic Variants

Gene:COQ4
Variant:p.N134_R135Splc

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
13 papers
NM_016035.5
p.N134_R135Splc
c.402+1G>C
Surrounding Variants
9 papers
NM_016035.5
p.N134_R135Splc
c.402+1G>A
5 papers
NM_016035.5
p.E126K
c.376G>A
8 papers
NM_016035.5
p.G124V
c.371G>T
25 papers
NM_016035.5
p.G124S
c.370G>A
1 paper
NM_016035.5
p.P119P
c.357G>T
10 papers
NM_016035.5
p.P119L
c.356C>T
1 paper
NM_016035.5
p.Q116H
c.348G>C
1 paper
NM_016035.5
p.G113_K114delins
c.338_341delinsG
1 paper
NM_016035.5
p.D111N
c.331G>A
7 papers
NM_016035.5
p.D111Y
c.331G>T
1 paper
NM_016035.5
p.S106S
c.318G>A
1 paper
NM_016035.5
p.S106L
c.317C>T
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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."