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.S507A

c.1519T>G

Surrounding Variants

1 paper

NM_000096.4

p.A506_H508delFs

c.1518_1522del5

3 papers

NM_000096.4

p.S505insFs

c.1513_1514insT

1 paper

NM_000096.4

p.A510T

c.1528G>A

2 papers

NM_000096.4

p.P511S

c.1531C>T

1 paper

NM_000096.4

p.V509_P511del3

c.1525_1532del9

1 paper

NM_000096.4

p.S501R

c.1503T>G

1 paper

NM_000096.4

p.S501R

c.1503T>A

1 paper

NM_000096.4

p.T512I

c.1535C>T

1 paper

NM_000096.4

p.T512T

c.1536A>T

1 paper

NM_000096.4

p.E513Q

c.1537G>C

1 paper

NM_000096.4

p.S501Splc

c.1502-1G>C

1 paper

NM_000096.4

p.S501Splc

c.1502-1G>A