Varaico: Literature-Extracted Genetic Variants

Gene:NCL
Variant:p.Q50R

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.Q50R
c.149A>G
Surrounding Variants
1 paper
NM_005381.3
p.P49T
c.145C>A
1 paper
NM_005381.3
p.K52N
c.156A>T
1 paper
NM_005381.3
p.G53S
c.157G>A
1 paper
NM_005381.3
p.G53V
c.158G>T
1 paper
NM_005381.3
p.G53A
c.158G>C
2 papers
NM_005381.3
p.K54R
c.161A>G
1 paper
NM_005381.3
p.A57P
c.169G>C
2 papers
NM_005381.3
p.T59I
c.176C>T
1 paper
NM_005381.3
p.A61E
c.182C>A
1 paper
NM_005381.3
p.K62*
c.184A>T
1 paper
NM_005381.3
p.V64G
c.191T>G
1 paper
NM_005381.3
p.P68S
c.202C>T
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