Varaico: Literature-Extracted Genetic Variants

Gene:SCO2
Variant:p.R20P

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
7 papers
NM_005138.3
p.R20P
c.59G>C
Surrounding Variants
1 paper
NM_005138.3
p.R20Q
c.59G>A
1 paper
NM_005138.3
p.H12_P19delFs
c.36_57del22
1 paper
NM_005138.3
p.R20fs
c.58_59fs
1 paper
NM_005138.3
p.V21insFs
c.62_63insC
1 paper
NM_005138.3
p.P19S
c.55C>T
1 paper
NM_005138.3
p.L22delFs
c.65delA
1 paper
NM_005138.3
p.L17H
c.50T>A
1 paper
NM_005138.3
p.G24R
c.70G>A
1 paper
NM_005138.3
p.Q16_L17insT
c.46_50ins3
1 paper
NM_005138.3
p.R6_L14del0
c.16_42del27
2 papers
NM_005138.3
p.R13delFs
c.39delC
2 papers
NM_005138.3
p.R13fs
c.37_38fs
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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."