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.G450A

c.1349G>C

Surrounding Variants

1 paper

NM_000096.4

p.G450C

c.1348G>T

1 paper

NM_000096.4

p.G450R

c.1348G>C

1 paper

NM_000096.4

p.P451S

c.1351C>T

1 paper

NM_000096.4

p.P451H

c.1352C>A

1 paper

NM_000096.4

p.V452A

c.1355T>C

1 paper

NM_000096.4

p.I453F

c.1357A>T

1 paper

NM_000096.4

p.I453V

c.1357A>G

1 paper

NM_000096.4

p.W454insFs

c.1360dupT

3 papers

NM_000096.4

p.E456Q

c.1366G>C

1 paper

NM_000096.4

p.E456A

c.1367A>C

1 paper

NM_000096.4

p.G458V

c.1373G>T

1 paper

NM_000096.4

p.D459N

c.1375G>A