Varaico: Literature-Extracted Genetic Variants

Gene:NCL
Variant:p.K80insFs

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.K80insFs
c.238_239insG
Surrounding Variants
2 papers
NM_005381.3
p.K80I
c.239A>T
1 paper
NM_005381.3
p.K80insFs
c.239_240insG
1 paper
NM_005381.3
p.A78V
c.233C>T
1 paper
NM_005381.3
p.A78insFs
c.233_234insG
1 paper
NM_005381.3
p.P77S
c.229C>T
1 paper
NM_005381.3
p.V83D
c.248T>A
1 paper
NM_005381.3
p.T76P
c.226A>C
1 paper
NM_005381.3
p.T84insFs
c.250_251insA
1 paper
NM_005381.3
p.A73S
c.217G>T
1 paper
NM_005381.3
p.V72A
c.215T>C
1 paper
NM_005381.3
p.A90insFs
c.268_269insC
1 paper
NM_005381.3
p.A90P
c.268G>C
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