Varaico: Literature-Extracted Genetic Variants

Gene:NCL
Variant:p.E26A

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
2 papers
NM_005381.3
p.E26A
c.77A>C
Surrounding Variants
1 paper
NM_005381.3
p.E25_E26insFs
c.75_76insA
1 paper
NM_005381.3
p.D27H
c.79G>C
1 paper
NM_005381.3
p.E29insFs
c.86dupA
1 paper
NM_005381.3
p.K22Q
c.64A>C
1 paper
NM_005381.3
p.E31E
c.93G>A
1 paper
NM_005381.3
p.E31delFs
c.92delT
1 paper
NM_005381.3
p.P20H
c.59C>A
1 paper
NM_005381.3
p.M33R
c.98T>G
1 paper
NM_005381.3
p.S34A
c.100T>G
1 paper
NM_005381.3
p.K16R
c.47A>G
1 paper
NM_005381.3
p.K16Q
c.46A>C
1 paper
NM_005381.3
p.K15K
c.45G>A
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