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.S865C

c.2594C>G

Surrounding Variants

1 paper

NM_000096.4

p.S865insFs

c.2593_2594ins4

1 paper

NM_000096.4

p.S865P

c.2593T>C

1 paper

NM_000096.4

p.G866R

c.2596G>C

1 paper

NM_000096.4

p.G866R

c.2596G>A

1 paper

NM_000096.4

p.R864I

c.2591G>T

1 paper

NM_000096.4

p.A867fs

c.2599_2600fs

1 paper

NM_000096.4

p.A867T

c.2599G>A

1 paper

NM_000096.4

p.A867V

c.2600C>T

1 paper

NM_000096.4

p.G868fs

c.2602_2603fs

7 papers

NM_000096.4

p.G868delFs

c.2602delC

1 paper

NM_000096.4

p.I861insFs

c.2582_2583insG

1 paper

NM_000096.4

p.I861insFs

c.2581dupA