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.Y579C

c.1736A>G

Surrounding Variants

1 paper

NM_000096.4

p.E577delFs

c.1731delT

1 paper

NM_000096.4

p.K576E

c.1726A>G

1 paper

NM_000096.4

p.K576Q

c.1726A>C

1 paper

NM_000096.4

p.K576_E577insG

c.1726_1730ins3

1 paper

NM_000096.4

p.P582delFs

c.1745_1746delAG

1 paper

NM_000096.4

p.T583I

c.1748C>T

1 paper

NM_000096.4

p.V584A

c.1751T>C

1 paper

NM_000096.4

p.V584V

c.1752A>G

1 paper

NM_000096.4

p.F581_V584delFs

c.1742_1751del10

1 paper

NM_000096.4

p.F585L

c.1753T>C

2 papers

NM_000096.4

p.F585I

c.1753T>A

1 paper

NM_000096.4

p.E587D

c.1761G>T