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.Y779D

c.2335T>G

Surrounding Variants

1 paper

NM_000096.4

p.K780Q

c.2338A>C

1 paper

NM_000096.4

p.K780T

c.2339A>C

1 paper

NM_000096.4

p.S777L

c.2330C>T

1 paper

NM_000096.4

p.V782F

c.2344G>T

1 paper

NM_000096.4

p.V783M

c.2347G>A

1 paper

NM_000096.4

p.I775V

c.2323A>G

1 paper

NM_000096.4

p.Y774ins4

c.2320_2321ins12

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.F773L

c.2317T>C

1 paper

NM_000096.4

p.R785W

c.2353C>T

1 paper

NM_000096.4

p.R785Q

c.2354G>A