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.E797fs

c.2389_2390fs

Surrounding Variants

3 papers

NM_000096.4

p.E797delFs

c.2389delC

1 paper

NM_000096.4

p.P795delFs

c.2385delT

1 paper

NM_000096.4

p.R798*

c.2392A>T

1 paper

NM_000096.4

p.E797_R798del1

c.2391_2393delCTC

2 papers

NM_000096.4

p.P795S

c.2383C>T

1 paper

NM_000096.4

p.K799Q

c.2395A>C

1 paper

NM_000096.4

p.A800T

c.2398G>A

6 papers

NM_000096.4

p.R793H

c.2378G>A

1 paper

NM_000096.4

p.R793C

c.2377C>T

1 paper

NM_000096.4

p.F792L

c.2376C>G

1 paper

NM_000096.4

p.F792L

c.2376C>A

1 paper

NM_000096.4

p.E801G

c.2402A>G