Varaico: Literature-Extracted Genetic Variants

NCL

431 papers

RefSeq Summary

Nucleolin (NCL), a eukaryotic nucleolar phosphoprotein, is involved in the synthesis and maturation of ribosomes. It is located mainly in dense fibrillar regions of the nucleolus. Human NCL gene consi...

Pfam Domains

RRM_1aa 309–377UCSCRNA recognition motif

RRM_1aa 395–460UCSCRNA recognition motif

RRM_1aa 488–554UCSCRNA recognition motif

RRM_1aa 574–641UCSCRNA recognition motif

Gene Aliases

HGNC Name

nucleolin

HGNC Alias Symbols

C23; Nsr1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005381.3

p.G137S

c.409G>A

Surrounding Variants

1 paper

NM_005381.3

p.K138R

c.413A>G

1 paper

NM_005381.3

p.A134E

c.401C>A

1 paper

NM_005381.3

p.G137_N139del0

c.409_417del9

1 paper

NM_005381.3

p.K141E

c.421A>G

1 paper

NM_005381.3

p.K142R

c.425A>G

1 paper

NM_005381.3

p.A131P

c.391G>C

1 paper

NM_005381.3

p.P130A

c.388C>G

1 paper

NM_005381.3

p.A128_I129insG

c.382_386ins3

2 papers

NM_005381.3

p.K125E

c.373A>G

1 paper

NM_005381.3

p.G108_G123del0

c.324_368del45

2 papers

NM_005381.3

p.G123D

c.368G>A

2 papers

NM_005381.3

p.D151Y

c.451G>T