Varaico: Literature-Extracted Genetic Variants

Gene:COQ4

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
1–12 of 125 variants
36 papers
NM_016035.5
p.R240C
c.718C>T
25 papers
NM_016035.5
p.G124S
c.370G>A
18 papers
NM_016035.5
p.F146C
c.437T>G
15 papers
NM_016035.5
p.E161D
c.483G>C
13 papers
NM_016035.5
p.N134_R135Splc
c.402+1G>C
13 papers
NM_016035.5
p.R141*
c.421C>T
13 papers
NM_016035.5
p.W184R
c.550T>C
12 papers
NM_016035.5
p.L52S
c.155T>C
12 papers
NM_016035.5
p.P64S
c.190C>T
12 papers
NM_016035.5
p.D68H
c.202G>C
12 papers
NM_016035.5
p.R145G
c.433C>G
12 papers
NM_016035.5
p.E161D
c.483G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."