Varaico: Literature-Extracted Genetic Variants

Gene:SCO1
Variant:p.H114N

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.H114N
c.340C>A
Surrounding Variants
2 papers
NM_004589.4
p.H114Q
c.342C>G
2 papers
NM_004589.4
p.H114Q
c.342C>A
1 paper
NM_004589.4
p.A107_G111delins
c.321_331delinsAT
1 paper
NM_004589.4
p.A120T
c.358G>A
3 papers
NM_004589.4
p.G106_A107del1
c.317_319delCTC
1 paper
NM_004589.4
p.E121Q
c.361G>C
1 paper
NM_004589.4
p.G106*
c.316G>T
1 paper
NM_004589.4
p.V93Fs
c.277_279delinsTAFs
1 paper
NM_004589.4
p.V93delins
c.277_279delinsTAA
1 paper
NM_004589.4
p.G91_P92Splc
c.273+2T>G
1 paper
NM_004589.4
p.K89*
c.265A>T
1 paper
NM_004589.4
p.P87delFs
c.261delG
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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."