Varaico: Literature-Extracted Genetic Variants

Gene:SCO1
Variant:p.R149L

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
Selected Variant
1 paper
NM_004589.4
p.R149L
c.446G>T
Surrounding Variants
1 paper
NM_004589.4
p.L142V
c.424C>G
2 papers
NM_004589.4
p.P139L
c.416C>T
2 papers
NM_004589.4
p.P139S
c.415C>T
1 paper
NM_004589.4
p.L136F
c.406C>T
1 paper
NM_004589.4
p.G132R
c.394G>C
11 papers
NM_004589.4
p.G132S
c.394G>A
1 paper
NM_004589.4
p.Q128L
c.383A>T
1 paper
NM_004589.4
p.R127Q
c.380G>A
1 paper
NM_004589.4
p.R127W
c.379C>T
2 papers
NM_004589.4
p.P174S
c.520C>T
27 papers
NM_004589.4
p.P174L
c.521C>T
1 paper
NM_004589.4
p.E176K
c.526G>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."