Varaico: Literature-Extracted Genetic Variants

Gene:NCL
Variant:p.L4Fs

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.L4Fs
c.12delinsAAFs
Surrounding Variants
1 paper
NM_005381.3
p.A5G
c.14C>G
1 paper
NM_005381.3
p.A5insFs
c.14_15insA
1 paper
NM_005381.3
p.A5E
c.14C>A
1 paper
NM_005381.3
p.A5_K6insFs
c.15_16insA
1 paper
NM_005381.3
p.K6R
c.17A>G
1 paper
NM_005381.3
p.V2Fs
c.4delinsGTFs
1 paper
NM_005381.3
p.K6insFs
c.17dupA
1 paper
NM_005381.3
p.V2V
c.6G>A
2 papers
NM_005381.3
p.M1I
c.3G>T
1 paper
NM_005381.3
p.M1insFs
c.2_3insT
2 papers
NM_005381.3
p.M1I
c.3G>C
3 papers
NM_005381.3
p.M1I
c.3G>A
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