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

13 papers

NM_000096.4

p.E255V

c.764A>T

Surrounding Variants

1 paper

NM_000096.4

p.E255A

c.764A>C

1 paper

NM_000096.4

p.E255D

c.765G>T

1 paper

NM_000096.4

p.E255D

c.765G>C

29 papers

NM_000096.4

p.E255K

c.763G>A

2 papers

NM_000096.4

p.V246_Q254del0

c.738_761del24

1 paper

NM_000096.4

p.S256N

c.767G>A

1 paper

NM_000096.4

p.S256S

c.768T>C

2 papers

NM_000096.4

p.Q254*

c.760C>T

1 paper

NM_000096.4

p.V246_D252insFs

c.736_755dup20

1 paper

NM_000096.4

p.R258G

c.772A>G

1 paper

NM_000096.4

p.D252A

c.755A>C

1 paper

NM_000096.4

p.M259I

c.777G>T