Varaico: Literature-Extracted Genetic Variants

Gene:SCO1
Variant:p.A2E

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.A2E
c.5C>A
Surrounding Variants
1 paper
NM_004589.4
p.A2V
c.5C>T
2 papers
NM_004589.4
p.M1T
c.2T>C
1 paper
NM_004589.4
p.L6V
c.16C>G
1 paper
NM_004589.4
p.L6insFs
c.16_17insT
1 paper
NM_004589.4
p.G9V
c.26G>T
1 paper
NM_004589.4
p.R10L
c.29G>T
1 paper
NM_004589.4
p.M12K
c.35T>A
1 paper
NM_004589.4
p.L15M
c.43C>A
1 paper
NM_004589.4
p.L6_P14del0
c.16_42del27
1 paper
NM_004589.4
p.G16_G17insT
c.46_50ins3
1 paper
NM_004589.4
p.G16A
c.47G>C
1 paper
NM_004589.4
p.G17D
c.50G>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."