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.G771R

c.2311G>A

Surrounding Variants

1 paper

NM_000096.4

p.G771R

c.2311G>C

1 paper

NM_000096.4

p.K770_G771delFs

c.2308_2311del4

1 paper

NM_000096.4

p.F773L

c.2317T>C

2 papers

NM_000096.4

p.D769insFs

c.2305_2306insC

2 papers

NM_000096.4

p.L768_D769insFs

c.2304_2305insC

1 paper

NM_000096.4

p.F773L

c.2319T>G

1 paper

NM_000096.4

p.F773L

c.2319T>A

1 paper

NM_000096.4

p.L768insFs

c.2302_2303insC

1 paper

NM_000096.4

p.Y774ins4

c.2320_2321ins12

2 papers

NM_000096.4

p.F767insFs

c.2299_2300insG

13 papers

NM_000096.4

p.F767insFs

c.2299_2300insC

1 paper

NM_000096.4

p.I775V

c.2323A>G