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.K237R

c.710A>G

Surrounding Variants

1 paper

NM_000096.4

p.I236insFs

c.707_708dupTT

1 paper

NM_000096.4

p.F221_I236del16

c.661_707del48

1 paper

NM_000096.4

p.I236T

c.707T>C

1 paper

NM_000096.4

p.N235del1

c.703_704delGTT

1 paper

NM_000096.4

p.N235delFs

c.704delT

1 paper

NM_000096.4

p.Y239F

c.716A>T

1 paper

NM_000096.4

p.N235I

c.704A>T

2 papers

NM_000096.4

p.N235S

c.704A>G

1 paper

NM_000096.4

p.N235T

c.704A>C

2 papers

NM_000096.4

p.N235D

c.703A>G

1 paper

NM_000096.4

p.C240R

c.718T>C

1 paper

NM_000096.4

p.C240S

c.718T>A