Varaico: Literature-Extracted Genetic Variants

Gene:SCO1
Variant:p.K281T

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.K281T
c.842A>C
Surrounding Variants
1 paper
NM_004589.4
p.I290insFs
c.868_869insT
1 paper
NM_004589.4
p.I290fs
c.868_869fs
1 paper
NM_004589.4
p.A291insFs
c.871_872insT
1 paper
NM_004589.4
p.I290_T292delFs
c.870_874del5
11 papers
NM_004589.4
p.M294V
c.880A>G
1 paper
NM_004589.4
p.G268A
c.803G>C
1 paper
NM_004589.4
p.S301N
c.902G>A
1 paper
NM_004589.4
p.D259_T261delFs
c.777_781del5
1 paper
NM_004589.4
p.*302Q
c.904T>C
1 paper
NM_004589.4
p.Y241C
c.722A>G
2 papers
NM_004589.4
p.R239G
c.715A>G
1 paper
NM_004589.4
p.G229S
c.685G>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."