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.W230C

c.690G>T

Surrounding Variants

1 paper

NM_000096.4

p.W230C

c.690G>C

1 paper

NM_000096.4

p.W230*

c.690G>A

1 paper

NM_000096.4

p.W230delFs

c.690delC

1 paper

NM_000096.4

p.W230*

c.689G>A

1 paper

NM_000096.4

p.W230G

c.688T>G

1 paper

NM_000096.4

p.W230R

c.688T>C

1 paper

NM_000096.4

p.Y231*

c.693C>G

1 paper

NM_000096.4

p.Y231*

c.693C>A

1 paper

NM_000096.4

p.S229T

c.686G>C

1 paper

NM_000096.4

p.Y231_L232ins0

c.692_694dupACC

1 paper

NM_000096.4

p.L232Q

c.695T>A

1 paper

NM_000096.4

p.N227insFs

c.680dupA