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.N315S

c.944A>G

Surrounding Variants

1 paper

NM_000096.4

p.I314S

c.941T>G

1 paper

NM_000096.4

p.F317V

c.949T>G

21 papers

NM_000096.4

p.F317L

c.949T>C

3 papers

NM_000096.4

p.F317I

c.949T>A

1 paper

NM_000096.4

p.F317C

c.950T>G

2 papers

NM_000096.4

p.T313I

c.938C>T

1 paper

NM_000096.4

p.T313R

c.938C>G

1 paper

NM_000096.4

p.T313K

c.938C>A

21 papers

NM_000096.4

p.F317L

c.951T>G

21 papers

NM_000096.4

p.F317L

c.951T>A

1 paper

NM_000096.4

p.P318S

c.952C>T

1 paper

NM_000096.4

p.F317delFs

c.950_951delAA