Varaico: Literature-Extracted Genetic Variants

Gene:SCO2
Variant:p.R245I

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.R245I
c.734G>T
Surrounding Variants
1 paper
NM_005138.3
p.R243fs
c.727_728fs
1 paper
NM_005138.3
p.G242S
c.724G>A
2 papers
NM_005138.3
p.Y241*
c.723C>G
2 papers
NM_005138.3
p.Y241*
c.723C>A
3 papers
NM_005138.3
p.S251L
c.752C>T
1 paper
NM_005138.3
p.T238M
c.713C>T
1 paper
NM_005138.3
p.D252fs
c.754_755fs
1 paper
NM_005138.3
p.F237fs
c.709_710fs
9 papers
NM_005138.3
p.R255W
c.763C>T
1 paper
NM_005138.3
p.R255Q
c.764G>A
1 paper
NM_005138.3
p.G235S
c.703G>A
1 paper
NM_005138.3
p.D234_G235insAA
c.700_704ins6
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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."