Varaico: Literature-Extracted Genetic Variants

Gene:SCO2
Variant:p.A227_L230del4

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.A227_L230del4
c.679_689del12
Surrounding Variants
1 paper
NM_005138.3
p.L230P
c.689T>C
1 paper
NM_005138.3
p.L230L
c.688C>T
1 paper
NM_005138.3
p.L230V
c.688C>G
1 paper
NM_005138.3
p.N232H
c.694A>C
2 papers
NM_005138.3
p.P233T
c.697C>A
1 paper
NM_005138.3
p.D234_G235insAA
c.700_704ins6
1 paper
NM_005138.3
p.G235S
c.703G>A
1 paper
NM_005138.3
p.I226V
c.676A>G
1 paper
NM_005138.3
p.H224_S225del0
c.670_675del6
14 papers
NM_005138.3
p.S225F
c.674C>T
1 paper
NM_005138.3
p.F237fs
c.709_710fs
1 paper
NM_005138.3
p.T238M
c.713C>T
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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."