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

4 papers

NM_005381.3

p.K116T

c.347A>C

Surrounding Variants

1 paper

NM_005381.3

p.P114L

c.341C>T

1 paper

NM_005381.3

p.L118L

c.354G>A

1 paper

NM_005381.3

p.A112_T113del2

c.334_338del6

1 paper

NM_005381.3

p.V119I

c.355G>A

1 paper

NM_005381.3

p.A112_T113delFs

c.334_337del4

1 paper

NM_005381.3

p.P122L

c.365C>T

2 papers

NM_005381.3

p.G123D

c.368G>A

1 paper

NM_005381.3

p.G108_G123del0

c.324_368del45

1 paper

NM_005381.3

p.P107_G108del2

c.319_323del6

2 papers

NM_005381.3

p.K125E

c.373A>G

1 paper

NM_005381.3

p.A128_I129insG

c.382_386ins3

1 paper

NM_005381.3

p.A103E

c.308C>A