Varaico: Literature-Extracted Genetic Variants

Gene:COX6B1

COX6B1

36 papers

RefSeq Summary

Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3...

Pfam Domains

COX6Baa 19–83UCSCCytochrome oxidase c subunit VIb

Gene Aliases

HGNC Name

cytochrome c oxidase subunit 6B1

HGNC Alias Symbol

COXG

Papers
RefSeq ID
Protein change
DNA change
1–12 of 19 variants
10 papers
NM_001863.5
p.R20C
c.58C>T
7 papers
NM_001863.5
p.R20H
c.59G>A
4 papers
NM_001863.5
p.T81P
c.241A>C
2 papers
NM_001863.5
p.D36Splc
c.106+45G>A
1 paper
NM_001863.5
p.D4V
c.11A>T
1 paper
NM_001863.5
p.T14T
c.42C>T
1 paper
NM_001863.5
p.P22S
c.64C>T
1 paper
NM_001863.5
p.W31R
c.91T>A
1 paper
NM_001863.5
p.W31R
c.91T>C
1 paper
NM_001863.5
p.D36Splc
c.106+1138A>C
1 paper
NM_001863.5
p.D50N
c.148G>A
1 paper
NM_001863.5
p.W69_V70Splc
c.208-1769C>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."