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.P896L

c.2687C>T

Surrounding Variants

1 paper

NM_000096.4

p.P896R

c.2687C>G

1 paper

NM_000096.4

p.P896H

c.2687C>A

1 paper

NM_000096.4

p.L897fs

c.2689_2690fs

1 paper

NM_000096.4

p.L897P

c.2690T>C

1 paper

NM_000096.4

p.L897delFs

c.2689delG

12 papers

NM_000096.4

p.G895A

c.2684G>C

1 paper

NM_000096.4

p.L897fs

c.2689_2690fs

1 paper

NM_000096.4

p.G895R

c.2683G>C

3 papers

NM_000096.4

p.L897delFs

c.2689_2690delAG

1 paper

NM_000096.4

p.I894T

c.2681T>C

1 paper

NM_000096.4

p.I894N

c.2681T>A

1 paper

NM_000096.4

p.I898M

c.2694T>G