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.W334R

c.1000T>A

Surrounding Variants

1 paper

NM_000096.4

p.W334R

c.1000T>C

1 paper

NM_000096.4

p.W334L

c.1001G>T

1 paper

NM_000096.4

p.W334*

c.1001G>A

1 paper

NM_000096.4

p.W334*

c.1002G>A

10 papers

NM_000096.4

p.M335L

c.1003A>T

1 paper

NM_000096.4

p.G332R

c.994G>C

1 paper

NM_000096.4

p.G332R

c.994G>A

1 paper

NM_000096.4

p.L336P

c.1007T>C

1 paper

NM_000096.4

p.P331T

c.991C>A

6 papers

NM_000096.4

p.C338S

c.1012T>A

6 papers

NM_000096.4

p.C338S

c.1013G>C

2 papers

NM_000096.4

p.C338Y

c.1013G>A