Varaico: Literature-Extracted Genetic Variants

Gene:SCO2
Variant:p.F104_L107Fs

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.F104_L107Fs
c.312_321delinsATFs
Surrounding Variants
1 paper
NM_005138.3
p.F104_L107delFs
c.312_321del10
1 paper
NM_005138.3
p.L107L
c.319C>T
2 papers
NM_005138.3
p.D108G
c.323A>G
1 paper
NM_005138.3
p.L106P
c.317T>C
1 paper
NM_005138.3
p.H109Y
c.325C>T
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.F104Fs
c.312delinsATFs
1 paper
NM_005138.3
p.F104insFs
c.311_312insAT
6 papers
NM_005138.3
p.R112W
c.334C>T
1 paper
NM_005138.3
p.D103N
c.307G>A
1 paper
NM_005138.3
p.A113S
c.337G>T
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."