Varaico: Literature-Extracted Genetic Variants

Gene:SCO2
Variant:p.K82fs

SCO2

259 papers

RefSeq Summary

Cytochrome c oxidase (COX) catalyzes the transfer of electrons from cytochrome c to molecular oxygen, which helps to maintain the proton gradient across the inner mitochondrial membrane that is necess...

Pfam Domains

SCO1-SenCaa 101–237UCSCSCO1/SenC

Gene Aliases

HGNC Name

synthesis of cytochrome C oxidase 2

HGNC Previous Symbol

MYP6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005138.3
p.K82fs
c.244_245fs
Surrounding Variants
1 paper
NM_005138.3
p.E81K
c.241G>A
1 paper
NM_005138.3
p.K82del1
c.244_246delCTT
1 paper
NM_005138.3
p.L78_R79insFs
c.234_235insAA
1 paper
NM_005138.3
p.L76_A77delFs
c.227_230del4
2 papers
NM_005138.3
p.G70_A77delFs
c.210_229del20
1 paper
NM_005138.3
p.Q87*
c.259C>T
1 paper
NM_005138.3
p.L76Q
c.227T>A
1 paper
NM_005138.3
p.L76L
c.226C>T
3 papers
NM_005138.3
p.W75R
c.223T>C
3 papers
NM_005138.3
p.W75R
c.223T>A
1 paper
NM_005138.3
p.K89*
c.265A>T
1 paper
NM_005138.3
p.Q88insFs
c.264dupA
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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."