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.S474G

c.1420A>G

Surrounding Variants

1 paper

NM_000096.4

p.S474R

c.1420A>C

1 paper

NM_000096.4

p.S474R

c.1422T>G

1 paper

NM_000096.4

p.S474R

c.1422T>A

1 paper

NM_000096.4

p.P472_L473delFs

c.1416_1417delGG

1 paper

NM_000096.4

p.L473fs

c.1417_1418fs

1 paper

NM_000096.4

p.I475T

c.1424T>C

1 paper

NM_000096.4

p.E476K

c.1426G>A

1 paper

NM_000096.4

p.P472T

c.1414C>A

1 paper

NM_000096.4

p.Y471*

c.1413T>G

1 paper

NM_000096.4

p.Y471*

c.1413T>A

1 paper

NM_000096.4

p.Y471insFs

c.1411_1412insTG

1 paper

NM_000096.4

p.Y471D

c.1411T>G