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.A346Splc

c.1036+2T>C

Surrounding Variants

1 paper

NM_000096.4

p.A346Splc

c.1036+1G>A

2 papers

NM_000096.4

p.A346T

c.1036G>A

1 paper

NM_000096.4

p.L344R

c.1031T>G

2 papers

NM_000096.4

p.L344P

c.1031T>C

1 paper

NM_000096.4

p.H343R

c.1028A>G

1 paper

NM_000096.4

p.H343Y

c.1027C>T

1 paper

NM_000096.4

p.Q339*

c.1015C>T

6 papers

NM_000096.4

p.C338S

c.1013G>C

2 papers

NM_000096.4

p.C338Y

c.1013G>A

1 paper

NM_000096.4

p.C338delFs

c.1012delA

6 papers

NM_000096.4

p.C338S

c.1012T>A

1 paper

NM_000096.4

p.L336P

c.1007T>C