Varaico: Literature-Extracted Genetic Variants

Gene:SCO1

SCO1

106 papers

RefSeq Summary

Mammalian cytochrome c oxidase (COX) catalyzes the transfer of reducing equivalents from cytochrome c to molecular oxygen and pumps protons across the inner mitochondrial membrane. In yeast, 2 related...

Pfam Domains

SCO1-SenCaa 137–273UCSCSCO1/SenC

Gene Aliases

HGNC Name

synthesis of cytochrome C oxidase 1

HGNC Previous Symbol

SCOD1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 82 variants
27 papers
NM_004589.4
p.P174L
c.521C>T
11 papers
NM_004589.4
p.G132S
c.394G>A
11 papers
NM_004589.4
p.M294V
c.880A>G
3 papers
NM_004589.4
p.A51E
c.152C>A
3 papers
NM_004589.4
p.G106_A107del1
c.317_319delCTC
2 papers
NM_004589.4
p.M1T
c.2T>C
2 papers
NM_004589.4
p.R57S
c.169C>A
2 papers
NM_004589.4
p.P58H
c.173C>A
2 papers
NM_004589.4
p.H114Q
c.342C>G
2 papers
NM_004589.4
p.H114Q
c.342C>A
2 papers
NM_004589.4
p.P139S
c.415C>T
2 papers
NM_004589.4
p.P139L
c.416C>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."