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.L592V

c.1774C>G

Surrounding Variants

1 paper

NM_000096.4

p.L592F

c.1774C>T

1 paper

NM_000096.4

p.L592P

c.1775T>C

1 paper

NM_000096.4

p.S590I

c.1769G>T

1 paper

NM_000096.4

p.D595fs

c.1783_1784fs

1 paper

NM_000096.4

p.E589*

c.1765G>T

1 paper

NM_000096.4

p.N588K

c.1764T>G

1 paper

NM_000096.4

p.N588K

c.1764T>A

11 papers

NM_000096.4

p.N588Y

c.1762A>T

1 paper

NM_000096.4

p.E587D

c.1761G>T

1 paper

NM_000096.4

p.E587D

c.1761G>C

1 paper

NM_000096.4

p.N596K

c.1788T>G

1 paper

NM_000096.4

p.N596K

c.1788T>A