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.E165G

c.494A>G

Surrounding Variants

1 paper

NM_005381.3

p.D164N

c.490G>A

1 paper

NM_005381.3

p.E167*

c.499G>T

1 paper

NM_005381.3

p.E167Q

c.499G>C

1 paper

NM_005381.3

p.E167G

c.500A>G

1 paper

NM_005381.3

p.D162ins6

c.485_486ins18

1 paper

NM_005381.3

p.E158G

c.473A>G

1 paper

NM_005381.3

p.D156_E157delins

c.468_469delinsCC

1 paper

NM_005381.3

p.A173_A174insFs

c.519_520insA

1 paper

NM_005381.3

p.A177delFs

c.530delG

1 paper

NM_005381.3

p.A178V

c.533C>T

2 papers

NM_005381.3

p.D151Y

c.451G>T

1 paper

NM_005381.3

p.A180T

c.538G>A