Varaico: Literature-Extracted Genetic Variants

Gene:CCS
Variant:p.M50V

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.M50V
c.148A>G
Surrounding Variants
1 paper
NM_005125.2
p.D48E
c.144C>A
1 paper
NM_005125.2
p.E61V
c.182A>T
1 paper
NM_005125.2
p.A64T
c.190G>A
1 paper
NM_005125.2
p.L65I
c.193C>A
1 paper
NM_005125.2
p.G68S
c.202G>A
1 paper
NM_005125.2
p.R71Q
c.212G>A
1 paper
NM_005125.2
p.Q72*
c.214C>T
1 paper
NM_005125.2
p.V74E
c.221T>A
1 paper
NM_005125.2
p.V74G
c.221T>G
1 paper
NM_005125.2
p.G79R
c.235G>C
1 paper
NM_005125.2
p.A89V
c.266C>T
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."