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

4 papers

NM_000096.4

p.T788I

c.2363C>T

Surrounding Variants

1 paper

NM_000096.4

p.T788delFs

c.2363delG

1 paper

NM_000096.4

p.Y787H

c.2359T>C

1 paper

NM_000096.4

p.R785Q

c.2354G>A

1 paper

NM_000096.4

p.R785W

c.2353C>T

1 paper

NM_000096.4

p.F792L

c.2374T>C

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.R793C

c.2377C>T

6 papers

NM_000096.4

p.R793H

c.2378G>A

1 paper

NM_000096.4

p.V783M

c.2347G>A

1 paper

NM_000096.4

p.V782F

c.2344G>T

2 papers

NM_000096.4

p.P795S

c.2383C>T