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.Y904*

c.2712C>A

Surrounding Variants

1 paper

NM_000096.4

p.Y904*

c.2712C>G

1 paper

NM_000096.4

p.Y904delFs

c.2712delG

1 paper

NM_000096.4

p.L905*

c.2714T>A

3 papers

NM_000096.4

p.R901*

c.2701C>T

1 paper

NM_000096.4

p.V899_C900delFs

c.2697_2700del4

1 paper

NM_000096.4

p.C900R

c.2698T>C

1 paper

NM_000096.4

p.V899A

c.2696T>C

1 paper

NM_000096.4

p.I898_V899delFs

c.2692_2695del4

1 paper

NM_000096.4

p.I898M

c.2694T>G

1 paper

NM_000096.4

p.L897fs

c.2689_2690fs

3 papers

NM_000096.4

p.L897delFs

c.2689_2690delAG

1 paper

NM_000096.4

p.L897P

c.2690T>C