Varaico: Literature-Extracted Genetic Variants

Gene:CCS
Variant:p.C227S

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.C227S
c.680G>C
Surrounding Variants
1 paper
NM_005125.2
p.C227S
c.679T>A
1 paper
NM_005125.2
p.L225*
c.674T>A
1 paper
NM_005125.2
p.G235S
c.703G>A
1 paper
NM_005125.2
p.G235C
c.703G>T
1 paper
NM_005125.2
p.N239K
c.717C>A
1 paper
NM_005125.2
p.N239K
c.717C>G
3 papers
NM_005125.2
p.C244S
c.730T>A
3 papers
NM_005125.2
p.C244S
c.731G>C
3 papers
NM_005125.2
p.C246S
c.736T>A
3 papers
NM_005125.2
p.C246S
c.737G>C
1 paper
NM_005125.2
p.H273H
c.819C>T
1 paper
NM_005125.2
p.R209Q
c.626G>A
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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."