Varaico: Literature-Extracted Genetic Variants

Gene:CCS
Variant:p.C113S

CCS

60 papers

RefSeq Summary

Copper chaperone for superoxide dismutase specifically delivers Cu to copper/zinc superoxide dismutase and may activate copper/zinc superoxide dismutase through direct insertion of the Cu cofactor. [p...

Pfam Domains

HMAaa 15–72UCSCHeavy-metal-associated domain
Sod_Cuaa 99–230UCSCCopper/zinc superoxide dismutase (SODC)

Gene Aliases

HGNC Name

copper chaperone for superoxide dismutase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005125.2
p.C113S
c.337T>A
Surrounding Variants
1 paper
NM_005125.2
p.C113S
c.338G>C
1 paper
NM_005125.2
p.R112S
c.334C>A
1 paper
NM_005125.2
p.R112C
c.334C>T
1 paper
NM_005125.2
p.T109S
c.326C>G
1 paper
NM_005125.2
p.T109S
c.325A>T
1 paper
NM_005125.2
p.G117A
c.350G>C
1 paper
NM_005125.2
p.L106V
c.316C>G
1 paper
NM_005125.2
p.G97D
c.290G>A
1 paper
NM_005125.2
p.V131I
c.391G>A
1 paper
NM_005125.2
p.G94R
c.280G>A
1 paper
NM_005125.2
p.G94R
c.280G>C
1 paper
NM_005125.2
p.L93delFs
c.278delT
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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."