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.N496N

c.1488C>T

Surrounding Variants

1 paper

NM_000096.4

p.P497R

c.1490C>G

1 paper

NM_000096.4

p.Y490_Y495del6

c.1468_1484del18

1 paper

NM_000096.4

p.N494Y

c.1480A>T

1 paper

NM_000096.4

p.P493L

c.1478C>T

1 paper

NM_000096.4

p.R500*

c.1498A>T

1 paper

NM_000096.4

p.P493S

c.1477C>T

1 paper

NM_000096.4

p.S501Splc

c.1501+1G>A

1 paper

NM_000096.4

p.Y491C

c.1472A>G

1 paper

NM_000096.4

p.G488S

c.1462G>A

1 paper

NM_000096.4

p.N483S

c.1448A>G

1 paper

NM_000096.4

p.V480G

c.1439T>G

1 paper

NM_000096.4

p.G479A

c.1436G>C