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

1–12 of 1480 variants

29 papers

NM_000096.4

p.E255K

c.763G>A

21 papers

NM_000096.4

p.F317L

c.949T>C

21 papers

NM_000096.4

p.F317L

c.951T>G

21 papers

NM_000096.4

p.F317L

c.951T>A

13 papers

NM_000096.4

p.E255V

c.764A>T

13 papers

NM_000096.4

p.F767insFs

c.2299_2300insC

12 papers

NM_000096.4

p.G895A

c.2684G>C

11 papers

NM_000096.4

p.N588Y

c.1762A>T

10 papers

NM_000096.4

p.M335L

c.1003A>T

10 papers

NM_000096.4

p.T551I

c.1652C>T

9 papers

NM_000096.4

p.P477L

c.1430C>T

9 papers

NM_000096.4

p.W877*

c.2630G>A