Varaico: Literature-Extracted Genetic Variants

Gene:SCO2
Variant:p.Q150*

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.Q150*
c.448C>T
Surrounding Variants
1 paper
NM_005138.3
p.Q150P
c.449A>C
2 papers
NM_005138.3
p.R149L
c.446G>T
1 paper
NM_005138.3
p.R149Q
c.446G>A
1 paper
NM_005138.3
p.R149W
c.445C>T
1 paper
NM_005138.3
p.L151R
c.452T>G
8 papers
NM_005138.3
p.L151P
c.452T>C
1 paper
NM_005138.3
p.V147E
c.440T>A
1 paper
NM_005138.3
p.A153V
c.458C>T
1 paper
NM_005138.3
p.Q146R
c.437A>G
1 paper
NM_005138.3
p.Q146insFs
c.436_437insC
1 paper
NM_005138.3
p.Q146*
c.436C>T
1 paper
NM_005138.3
p.P155fs
c.463_464fs
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