Varaico: Literature-Extracted Genetic Variants

Gene:COQ4
Variant:p.R11G

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.R11G
c.31C>G
Surrounding Variants
1 paper
NM_016035.5
p.L12_Q19delFs
c.36_57del22
1 paper
NM_016035.5
p.L9F
c.25C>T
1 paper
NM_016035.5
p.V8A
c.23T>C
3 papers
NM_016035.5
p.V8fs
c.22_23fs
9 papers
NM_016035.5
p.V8_R11delFs
c.23_33del11
1 paper
NM_016035.5
p.P7R
c.20C>G
3 papers
NM_016035.5
p.G17D
c.50G>A
1 paper
NM_016035.5
p.L18I
c.52C>A
1 paper
NM_016035.5
p.M1I
c.3G>A
1 paper
NM_016035.5
p.R20Q
c.59G>A
1 paper
NM_016035.5
p.M1I
c.3G>C
2 papers
NM_016035.5
p.M1I
c.3G>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."