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.V883A

c.2648T>C

Surrounding Variants

1 paper

NM_000096.4

p.Y880H

c.2638T>C

1 paper

NM_000096.4

p.Y879*

c.2637T>G

1 paper

NM_000096.4

p.Y879*

c.2637T>A

1 paper

NM_000096.4

p.Y879F

c.2636A>T

1 paper

NM_000096.4

p.K887insFs

c.2660_2661insC

1 paper

NM_000096.4

p.K887delFs

c.2659delT

1 paper

NM_000096.4

p.K887_D888Splc

c.2661+1G>T

1 paper

NM_000096.4

p.I875_W877del3

c.2623_2630del9

2 papers

NM_000096.4

p.W877*

c.2631G>A

9 papers

NM_000096.4

p.W877*

c.2630G>A

1 paper

NM_000096.4

p.W877R

c.2629T>C

1 paper

NM_000096.4

p.W877R

c.2629T>A