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.P477T

c.1429C>A

Surrounding Variants

9 papers

NM_000096.4

p.P477L

c.1430C>T

1 paper

NM_000096.4

p.E476K

c.1426G>A

1 paper

NM_000096.4

p.I475T

c.1424T>C

2 papers

NM_000096.4

p.G479R

c.1435G>C

2 papers

NM_000096.4

p.G479R

c.1435G>A

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.G479A

c.1436G>C

1 paper

NM_000096.4

p.G479E

c.1436G>A

1 paper

NM_000096.4

p.S474G

c.1420A>G

1 paper

NM_000096.4

p.S474R

c.1420A>C

1 paper

NM_000096.4

p.V480G

c.1439T>G