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.P604H

c.1811C>A

Surrounding Variants

1 paper

NM_000096.4

p.P604insFs

c.1810dupC

1 paper

NM_000096.4

p.P604T

c.1810C>A

1 paper

NM_000096.4

p.Q606_V607insA

c.1816_1820ins3

1 paper

NM_000096.4

p.V607insFs

c.1819_1820insA

1 paper

NM_000096.4

p.V607M

c.1819G>A

1 paper

NM_000096.4

p.Q606_V607del2

c.1816_1820del6

1 paper

NM_000096.4

p.D611N

c.1831G>A

1 paper

NM_000096.4

p.N596del1

c.1786_1787delATT

1 paper

NM_000096.4

p.N596K

c.1788T>G

1 paper

NM_000096.4

p.N596K

c.1788T>A

2 papers

NM_000096.4

p.D595_N596delFs

c.1783_1787del5

1 paper

NM_000096.4

p.D595fs

c.1783_1784fs