Varaico: Literature-Extracted Genetic Variants

Gene:SCO2
Variant:p.T59I

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.T59I
c.176C>T
Surrounding Variants
4 papers
NM_005138.3
p.R60Q
c.179G>A
2 papers
NM_005138.3
p.R58*
c.172C>T
1 paper
NM_005138.3
p.L62_I63insC
c.184_188ins3
1 paper
NM_005138.3
p.P55L
c.164C>T
1 paper
NM_005138.3
p.P55S
c.163C>T
1 paper
NM_005138.3
p.I63M
c.189C>G
35 papers
NM_005138.3
p.Q53*
c.157C>T
2 papers
NM_005138.3
p.F67L
c.199T>C
1 paper
NM_005138.3
p.F67F
c.201C>T
1 paper
NM_005138.3
p.G68R
c.202G>C
1 paper
NM_005138.3
p.G68R
c.202G>A
1 paper
NM_005138.3
p.Q49*
c.145C>T
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