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

2 papers

NM_000096.4

p.G264R

c.790G>C

Surrounding Variants

2 papers

NM_000096.4

p.G264*

c.790G>T

2 papers

NM_000096.4

p.G264R

c.790G>A

1 paper

NM_000096.4

p.G264A

c.791G>C

1 paper

NM_000096.4

p.G264E

c.791G>A

2 papers

NM_000096.4

p.N263S

c.788A>G

1 paper

NM_000096.4

p.N263D

c.787A>G

1 paper

NM_000096.4

p.S261_V262Fs

c.782_786delinsGAAAAGFs

1 paper

NM_000096.4

p.Y265insFs

c.794dupA

1 paper

NM_000096.4

p.F267L

c.799T>C

1 paper

NM_000096.4

p.F267I

c.799T>A

3 papers

NM_000096.4

p.S261Splc

c.782-1G>C

1 paper

NM_000096.4

p.S261Splc

c.782-2A>G