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.L553P

c.1658T>C

Surrounding Variants

1 paper

NM_000096.4

p.L553L

c.1659T>C

1 paper

NM_000096.4

p.L553F

c.1657C>T

1 paper

NM_000096.4

p.G552fs

c.1654_1655fs

1 paper

NM_000096.4

p.I554N

c.1661T>A

1 paper

NM_000096.4

p.T546_I554insFs

c.1638_1660dup23

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.G555W

c.1663G>T

1 paper

NM_000096.4

p.G555A

c.1664G>C

2 papers

NM_000096.4

p.G555E

c.1664G>A

10 papers

NM_000096.4

p.T551I

c.1652C>T

1 paper

NM_000096.4

p.T551insFs

c.1651dupA