Varaico: Literature-Extracted Genetic Variants

Gene:SCO1
Variant:p.L196I

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
2 papers
NM_004589.4
p.L196I
c.586C>A
Surrounding Variants
1 paper
NM_004589.4
p.P198R
c.593C>G
1 paper
NM_004589.4
p.P198P
c.594A>G
1 paper
NM_004589.4
p.T191insFs
c.572_573ins4
1 paper
NM_004589.4
p.S189delFs
c.566delC
1 paper
NM_004589.4
p.D188G
c.563A>G
1 paper
NM_004589.4
p.R207W
c.619A>T
1 paper
NM_004589.4
p.V217M
c.649G>A
1 paper
NM_004589.4
p.V184delFs
c.552delC
1 paper
NM_004589.4
p.E178Q
c.532G>C
1 paper
NM_004589.4
p.L177R
c.530T>G
1 paper
NM_004589.4
p.E176K
c.526G>A
27 papers
NM_004589.4
p.P174L
c.521C>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."