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.D548N

c.1642G>A

Surrounding Variants

1 paper

NM_000096.4

p.D548Y

c.1642G>T

1 paper

NM_000096.4

p.P545L

c.1634C>T

1 paper

NM_000096.4

p.E544delFs

c.1632delT

10 papers

NM_000096.4

p.T551I

c.1652C>T

1 paper

NM_000096.4

p.T551insFs

c.1651dupA

5 papers

NM_000096.4

p.E544D

c.1632A>T

1 paper

NM_000096.4

p.E544D

c.1632A>C

1 paper

NM_000096.4

p.G552R

c.1654G>A

1 paper

NM_000096.4

p.T551delFs

c.1653delA

1 paper

NM_000096.4

p.V543A

c.1628T>C

1 paper

NM_000096.4

p.G552fs

c.1654_1655fs

1 paper

NM_000096.4

p.L553F

c.1657C>T