Varaico: Literature-Extracted Genetic Variants

Gene:SCO2
Variant:p.A44S

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.A44S
c.130G>T
Surrounding Variants
1 paper
NM_005138.3
p.E45D
c.135G>C
1 paper
NM_005138.3
p.Q41R
c.122A>G
1 paper
NM_005138.3
p.Q41P
c.122A>C
1 paper
NM_005138.3
p.G47C
c.139G>T
1 paper
NM_005138.3
p.G48R
c.142G>C
1 paper
NM_005138.3
p.G48R
c.142G>A
1 paper
NM_005138.3
p.S39S
c.117A>T
1 paper
NM_005138.3
p.S39*
c.116C>G
1 paper
NM_005138.3
p.Q49*
c.145C>T
7 papers
NM_005138.3
p.W36*
c.108G>A
7 papers
NM_005138.3
p.W36*
c.107G>A
35 papers
NM_005138.3
p.Q53*
c.157C>T
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