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.M326T

c.977T>C

Surrounding Variants

1 paper

NM_000096.4

p.M326I

c.978G>T

1 paper

NM_000096.4

p.M326I

c.978G>C

1 paper

NM_000096.4

p.M326I

c.978G>A

1 paper

NM_000096.4

p.M326V

c.976A>G

1 paper

NM_000096.4

p.A324_Y325insFs

c.971_974dup4

2 papers

NM_000096.4

p.D323N

c.967G>A

1 paper

NM_000096.4

p.L321delFs

c.961_962delAG

1 paper

NM_000096.4

p.P331T

c.991C>A

1 paper

NM_000096.4

p.L321_F322insT

c.961_965ins3

1 paper

NM_000096.4

p.T320_L321delins

c.958_961delinsAGTT

1 paper

NM_000096.4

p.G332R

c.994G>C

1 paper

NM_000096.4

p.G332R

c.994G>A