Varaico: Literature-Extracted Genetic Variants

Gene:SCO2
Variant:p.R90*

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
15 papers
NM_005138.3
p.R90*
c.268C>T
Surrounding Variants
1 paper
NM_005138.3
p.Q88insFs
c.264dupA
1 paper
NM_005138.3
p.K89*
c.265A>T
1 paper
NM_005138.3
p.T91A
c.271A>G
1 paper
NM_005138.3
p.Q87*
c.259C>T
4 papers
NM_005138.3
p.L94P
c.281T>C
1 paper
NM_005138.3
p.R95C
c.283C>T
1 paper
NM_005138.3
p.Q96*
c.286C>T
1 paper
NM_005138.3
p.K82del1
c.244_246delCTT
5 papers
NM_005138.3
p.A97V
c.290C>T
1 paper
NM_005138.3
p.A98S
c.292G>T
1 paper
NM_005138.3
p.K82fs
c.244_245fs
1 paper
NM_005138.3
p.A98V
c.293C>T
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