Varaico: Literature-Extracted Genetic Variants

Gene:SCO2
Variant:p.A259V

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
9 papers
NM_005138.3
p.A259V
c.776C>T
Surrounding Variants
3 papers
NM_005138.3
p.M258T
c.773T>C
1 paper
NM_005138.3
p.M258L
c.772A>T
1 paper
NM_005138.3
p.F261I
c.781T>A
1 paper
NM_005138.3
p.R262C
c.784C>T
2 papers
NM_005138.3
p.R262L
c.785G>T
1 paper
NM_005138.3
p.R262del1
c.784_785delGCG
1 paper
NM_005138.3
p.R255Q
c.764G>A
9 papers
NM_005138.3
p.R255W
c.763C>T
1 paper
NM_005138.3
p.V264G
c.791T>G
1 paper
NM_005138.3
p.D252fs
c.754_755fs
3 papers
NM_005138.3
p.S251L
c.752C>T
1 paper
NM_005138.3
p.S266_*267delFs
c.797_801del5
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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."