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.E803D

c.2409A>T

Surrounding Variants

1 paper

NM_000096.4

p.E803D

c.2409A>C

1 paper

NM_000096.4

p.E803del1

c.2407_2408delTTC

1 paper

NM_000096.4

p.E803G

c.2408A>G

1 paper

NM_000096.4

p.E803Q

c.2407G>C

1 paper

NM_000096.4

p.H804R

c.2411A>G

1 paper

NM_000096.4

p.L805P

c.2414T>C

1 paper

NM_000096.4

p.G806*

c.2416G>T

1 paper

NM_000096.4

p.E801G

c.2402A>G

1 paper

NM_000096.4

p.G806V

c.2417G>T

1 paper

NM_000096.4

p.I807insFs

c.2419_2420insAG

1 paper

NM_000096.4

p.A800T

c.2398G>A

1 paper

NM_000096.4

p.I807M

c.2421T>G