Varaico: Literature-Extracted Genetic Variants

Gene:SCO2
Variant:p.G193S

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
16 papers
NM_005138.3
p.G193S
c.577G>A
Surrounding Variants
1 paper
NM_005138.3
p.T192T
c.576C>T
1 paper
NM_005138.3
p.L191insFs
c.572_573ins4
1 paper
NM_005138.3
p.K196*
c.586A>T
1 paper
NM_005138.3
p.V198I
c.592G>A
1 paper
NM_005138.3
p.A199P
c.595G>C
1 paper
NM_005138.3
p.H185insFs
c.554_555insA
3 papers
NM_005138.3
p.A201P
c.601G>C
1 paper
NM_005138.3
p.A199_H203delFs
c.595_607del13
1 paper
NM_005138.3
p.Q182*
c.544C>T
1 paper
NM_005138.3
p.S204N
c.611G>A
1 paper
NM_005138.3
p.V181I
c.541G>A
1 paper
NM_005138.3
p.Y180Y
c.540C>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."