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.W283R

c.847T>C

Surrounding Variants

1 paper

NM_000096.4

p.W283R

c.847T>A

5 papers

NM_000096.4

p.W283S

c.848G>C

2 papers

NM_000096.4

p.W283*

c.848G>A

1 paper

NM_000096.4

p.W283*

c.849G>A

1 paper

NM_000096.4

p.V281G

c.842T>G

1 paper

NM_000096.4

p.Y284*

c.852C>G

1 paper

NM_000096.4

p.Y284*

c.852C>A

1 paper

NM_000096.4

p.V281L

c.841G>T

1 paper

NM_000096.4

p.R280T

c.839G>C

1 paper

NM_000096.4

p.R280K

c.839G>A

1 paper

NM_000096.4

p.D279delFs

c.835delC

1 paper

NM_000096.4

p.G287R

c.859G>C