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.D613D

c.1839C>T

Surrounding Variants

1 paper

NM_000096.4

p.Q615_E616insT

c.1843_1847ins3

2 papers

NM_000096.4

p.E616K

c.1846G>A

1 paper

NM_000096.4

p.D611N

c.1831G>A

1 paper

NM_000096.4

p.S617insFs

c.1849_1850insG

1 paper

NM_000096.4

p.S617P

c.1849T>C

1 paper

NM_000096.4

p.Q606_V607del2

c.1816_1820del6

1 paper

NM_000096.4

p.V607insFs

c.1819_1820insA

1 paper

NM_000096.4

p.V607M

c.1819G>A

1 paper

NM_000096.4

p.H621Y

c.1861C>T

1 paper

NM_000096.4

p.Q606_V607insA

c.1816_1820ins3

1 paper

NM_000096.4

p.H621P

c.1862A>C

3 papers

NM_000096.4

p.S622Splc

c.1864+1G>C