Varaico: Literature-Extracted Genetic Variants

Gene:COX5B

COX5B

32 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

COX5Baa 8–128UCSCCytochrome c oxidase subunit Vb

Gene Aliases

HGNC Name

cytochrome c oxidase subunit 5B

HGNC Previous Name

cytochrome c oxidase subunit Vb

Papers
RefSeq ID
Protein change
DNA change
1–12 of 15 variants
2 papers
NM_001862.3
p.P22S
c.64C>T
2 papers
NM_001862.3
p.Q125R
c.374A>G
1 paper
NM_001862.3
p.M1K
c.2T>A
1 paper
NM_001862.3
p.R4S
c.12G>C
1 paper
NM_001862.3
p.R4S
c.12G>T
1 paper
NM_001862.3
p.R18K
c.53G>A
1 paper
NM_001862.3
p.R20R
c.60C>A
1 paper
NM_001862.3
p.A55S
c.163G>T
1 paper
NM_001862.3
p.P61S
c.181C>T
1 paper
NM_001862.3
p.S82P
c.244T>C
1 paper
NM_001862.3
p.C93Splc
c.277+2T>A
1 paper
NM_001862.3
p.R112Q
c.335G>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."