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.Q571delFs

c.1712delT

Surrounding Variants

1 paper

NM_000096.4

p.Q571_K572Splc

c.1713+1G>T

1 paper

NM_000096.4

p.Q571_K572Splc

c.1713+5G>T

1 paper

NM_000096.4

p.Q571_K572Splc

c.1713+5G>A

1 paper

NM_000096.4

p.N568S

c.1703A>G

1 paper

NM_000096.4

p.H566D

c.1696C>G

2 papers

NM_000096.4

p.S564N

c.1691G>A

1 paper

NM_000096.4

p.G563E

c.1688G>A

1 paper

NM_000096.4

p.K561R

c.1682A>G

2 papers

NM_000096.4

p.C560F

c.1679G>T

1 paper

NM_000096.4

p.K558*

c.1672A>T

2 papers

NM_000096.4

p.M557R

c.1670T>G

1 paper

NM_000096.4

p.M557T

c.1670T>C