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.L535Q

c.1604T>A

Surrounding Variants

1 paper

NM_000096.4

p.C534W

c.1602T>G

1 paper

NM_000096.4

p.A536T

c.1606G>A

1 paper

NM_000096.4

p.C534Y

c.1601G>A

1 paper

NM_000096.4

p.K537N

c.1611G>C

1 paper

NM_000096.4

p.V533M

c.1597G>A

1 paper

NM_000096.4

p.M538L

c.1612A>T

1 paper

NM_000096.4

p.M538L

c.1612A>C

1 paper

NM_000096.4

p.M538R

c.1613T>G

1 paper

NM_000096.4

p.M538T

c.1613T>C

1 paper

NM_000096.4

p.E524_D531del8

c.1570_1592del24

2 papers

NM_000096.4

p.Y539C

c.1616A>G

1 paper

NM_000096.4

p.D531G

c.1592A>G