Varaico: Literature-Extracted Genetic Variants

Gene:SCO2
Variant:p.R114H

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
14 papers
NM_005138.3
p.R114H
c.341G>A
Surrounding Variants
1 paper
NM_005138.3
p.R114P
c.341G>C
1 paper
NM_005138.3
p.A113S
c.337G>T
6 papers
NM_005138.3
p.R112W
c.334C>T
1 paper
NM_005138.3
p.A117T
c.349G>A
1 paper
NM_005138.3
p.H109Q
c.327C>G
1 paper
NM_005138.3
p.H109Q
c.327C>A
1 paper
NM_005138.3
p.H109Y
c.325C>T
6 papers
NM_005138.3
p.R120W
c.358C>T
1 paper
NM_005138.3
p.R120Q
c.359G>A
2 papers
NM_005138.3
p.D108G
c.323A>G
1 paper
NM_005138.3
p.F104_L107delFs
c.312_321del10
3 papers
NM_005138.3
p.G121R
c.361G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."