Varaico: Literature-Extracted Genetic Variants

Gene:COX5A
Variant:p.P63P

COX5A

41 papers

RefSeq Summary

Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxy...

Pfam Domains

COX5Aaa 45–147UCSCCytochrome c oxidase subunit Va

Gene Aliases

HGNC Name

cytochrome c oxidase subunit 5A

HGNC Alias Symbol

COX-VA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004255.4
p.P63P
c.189A>G
Surrounding Variants
1 paper
NM_004255.4
p.A67T
c.199G>A
1 paper
NM_004255.4
p.T58A
c.172A>G
2 papers
NM_004255.4
p.R71H
c.212G>A
2 papers
NM_004255.4
p.R55C
c.163C>T
1 paper
NM_004255.4
p.I89S
c.266T>G
5 papers
NM_004255.4
p.R107C
c.319C>T
1 paper
NM_004255.4
p.E129Q
c.385G>C
1 paper
NM_004255.4
p.L130R
c.389T>G
1 paper
NM_004255.4
p.E144fs
c.430_431fs
2 papers
NM_004255.4
p.S25C
c.74C>G
1 paper
NM_004255.4
p.L22F
c.64C>T
1 paper
NM_004255.4
p.A12A
c.36C>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."