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

4 papers

NM_000096.4

p.F217S

c.650T>C

Surrounding Variants

1 paper

NM_000096.4

p.F217L

c.649T>C

1 paper

NM_000096.4

p.V218M

c.652G>A

1 paper

NM_000096.4

p.E216*

c.646G>T

2 papers

NM_000096.4

p.E216Q

c.646G>C

1 paper

NM_000096.4

p.E216K

c.646G>A

2 papers

NM_000096.4

p.V219E

c.656T>A

1 paper

NM_000096.4

p.R215*

c.643C>T

2 papers

NM_000096.4

p.I213_D214del2

c.637_641del6

1 paper

NM_000096.4

p.D214H

c.640G>C

1 paper

NM_000096.4

p.F221L

c.661T>C

1 paper

NM_000096.4

p.H212D

c.634C>G

1 paper

NM_000096.4

p.K211delFs

c.633delT