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.H300R

c.899A>G

Surrounding Variants

1 paper

NM_000096.4

p.G301R

c.901G>C

1 paper

NM_000096.4

p.G301R

c.901G>A

1 paper

NM_000096.4

p.F299V

c.895T>G

1 paper

NM_000096.4

p.H295_A296delFs

c.885_888del4

2 papers

NM_000096.4

p.L304L

c.910C>T

1 paper

NM_000096.4

p.A296T

c.886G>A

1 paper

NM_000096.4

p.T305A

c.913A>G

1 paper

NM_000096.4

p.H295R

c.884A>G

1 paper

NM_000096.4

p.T305_N306insFs

c.915_916insC

1 paper

NM_000096.4

p.T305T

c.915T>A

1 paper

NM_000096.4

p.H295Y

c.883C>T

1 paper

NM_000096.4

p.V294G

c.881T>G