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.N308Y

c.922A>T

Surrounding Variants

1 paper

NM_000096.4

p.N308D

c.922A>G

1 paper

NM_000096.4

p.K307N

c.921G>T

1 paper

NM_000096.4

p.K307N

c.921G>C

1 paper

NM_000096.4

p.N308S

c.923A>G

1 paper

NM_000096.4

p.N306_Y309delFs

c.917_926del10

1 paper

NM_000096.4

p.R310C

c.928C>T

1 paper

NM_000096.4

p.R310G

c.928C>G

1 paper

NM_000096.4

p.T305_N306insFs

c.915_916insC

1 paper

NM_000096.4

p.T305T

c.915T>A

2 papers

NM_000096.4

p.R310H

c.929G>A

1 paper

NM_000096.4

p.T305A

c.913A>G

2 papers

NM_000096.4

p.L304L

c.910C>T