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.W859*

c.2576G>A

Surrounding Variants

1 paper

NM_000096.4

p.W859R

c.2575T>C

1 paper

NM_000096.4

p.W859R

c.2575T>A

1 paper

NM_000096.4

p.W859*

c.2577G>A

1 paper

NM_000096.4

p.Y857_V858del1

c.2570_2572delCGT

1 paper

NM_000096.4

p.T856_Y857delFs

c.2568_2571del4

1 paper

NM_000096.4

p.Y857*

c.2571C>G

1 paper

NM_000096.4

p.Y857insFs

c.2570dupA

1 paper

NM_000096.4

p.Y857*

c.2571C>A

1 paper

NM_000096.4

p.I861insFs

c.2582_2583insG

1 paper

NM_000096.4

p.I861insFs

c.2581dupA

1 paper

NM_000096.4

p.L855delFs

c.2563delG

1 paper

NM_000096.4

p.T854T

c.2562T>G