Varaico: Literature-Extracted Genetic Variants

CP

1,199 papers

RefSeq Summary

The protein encoded by this gene is a metalloprotein that binds most of the copper in plasma and is involved in the peroxidation of Fe(II)transferrin to Fe(III) transferrin. Mutations in this gene cau...

Pfam Domains

Cu-oxidase_3aa 74–204UCSCMulticopper oxidase

Cu-oxidaseaa 221–358UCSCMulticopper oxidase

Cu-oxidase_3aa 802–903UCSCMulticopper oxidase

Cu-oxidase_2aa 937–1060UCSCMulticopper oxidase

Gene Aliases

HGNC Name

ceruloplasmin

HGNC Alias Symbol

AB073614

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000096.4

p.P243R

c.728C>G

Surrounding Variants

1 paper

NM_000096.4

p.P243Q

c.728C>A

1 paper

NM_000096.4

p.E244insFs

c.730_731insG

1 paper

NM_000096.4

p.E242*

c.724G>T

1 paper

NM_000096.4

p.E242K

c.724G>A

1 paper

NM_000096.4

p.V246G

c.737T>G

1 paper

NM_000096.4

p.V246A

c.737T>C

1 paper

NM_000096.4

p.C240F

c.719G>T

2 papers

NM_000096.4

p.C240S

c.719G>C

2 papers

NM_000096.4

p.C240Y

c.719G>A

1 paper

NM_000096.4

p.C240delFs

c.718delA

1 paper

NM_000096.4

p.C240R

c.718T>C

1 paper

NM_000096.4

p.C240S

c.718T>A