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

2 papers

NM_000096.4

p.F767insFs

c.2299_2300insG

Surrounding Variants

13 papers

NM_000096.4

p.F767insFs

c.2299_2300insC

3 papers

NM_000096.4

p.A766_F767insFs

c.2298_2299insC

2 papers

NM_000096.4

p.A766V

c.2297C>T

1 paper

NM_000096.4

p.A766G

c.2297C>G

1 paper

NM_000096.4

p.L768insFs

c.2302_2303insC

2 papers

NM_000096.4

p.N765S

c.2294A>G

2 papers

NM_000096.4

p.L768_D769insFs

c.2304_2305insC

2 papers

NM_000096.4

p.D769insFs

c.2305_2306insC

1 paper

NM_000096.4

p.S764*

c.2291C>G

1 paper

NM_000096.4

p.S764*

c.2291C>A

1 paper

NM_000096.4

p.G771R

c.2311G>C

1 paper

NM_000096.4

p.G771R

c.2311G>A