Varaico: Literature-Extracted Genetic Variants

Gene:SCO2
Variant:p.R6insFs

SCO2

259 papers

RefSeq Summary

Cytochrome c oxidase (COX) catalyzes the transfer of electrons from cytochrome c to molecular oxygen, which helps to maintain the proton gradient across the inner mitochondrial membrane that is necess...

Pfam Domains

SCO1-SenCaa 101–237UCSCSCO1/SenC

Gene Aliases

HGNC Name

synthesis of cytochrome C oxidase 2

HGNC Previous Symbol

MYP6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_005138.3
p.R6insFs
c.16_17ins19
Surrounding Variants
1 paper
NM_005138.3
p.R6fs
c.16_17fs
1 paper
NM_005138.3
p.R6insFs
c.16_17insT
1 paper
NM_005138.3
p.R6fs
c.16_17fs
1 paper
NM_005138.3
p.T5P
c.13A>C
1 paper
NM_005138.3
p.M1insFs
c.2dupT
1 paper
NM_005138.3
p.A10V
c.29C>T
2 papers
NM_005138.3
p.M1T
c.2T>C
1 paper
NM_005138.3
p.A10A
c.30T>A
2 papers
NM_005138.3
p.M1V
c.1A>G
1 paper
NM_005138.3
p.W11insFs
c.31dupT
1 paper
NM_005138.3
p.W11_H12insFs
c.33_34insT
2 papers
NM_005138.3
p.R13fs
c.37_38fs
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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."