Varaico: Literature-Extracted Genetic Variants

Gene:SCO2
Variant:p.G121R

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
3 papers
NM_005138.3
p.G121R
c.361G>C
Surrounding Variants
1 paper
NM_005138.3
p.G121D
c.362G>A
1 paper
NM_005138.3
p.R120Q
c.359G>A
6 papers
NM_005138.3
p.R120W
c.358C>T
1 paper
NM_005138.3
p.W123*
c.368G>A
1 paper
NM_005138.3
p.A117T
c.349G>A
1 paper
NM_005138.3
p.R114P
c.341G>C
14 papers
NM_005138.3
p.R114H
c.341G>A
1 paper
NM_005138.3
p.F128Y
c.383T>A
1 paper
NM_005138.3
p.A113S
c.337G>T
1 paper
NM_005138.3
p.G129R
c.385G>C
1 paper
NM_005138.3
p.G129V
c.386G>T
6 papers
NM_005138.3
p.R112W
c.334C>T
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