Varaico: Literature-Extracted Genetic Variants

Gene:NOL6
Variant:p.P3Q

NOL6

70 papers

RefSeq Summary

The nucleolus is a dense subnuclear membraneless organelle that assembles around clusters of rRNA genes and functions in ribosome biogenesis. This gene encodes a nucleolar RNA-associated protein that ...

Pfam Domains

Nrapaa 178–320UCSCNrap protein domain 1
Nrap_D2aa 323–463UCSCNrap protein PAP/OAS-like domain
Nrap_D3aa 466–628UCSCNrap protein domain 3
Nrap_D4aa 640–846UCSCNrap protein nucleotidyltransferase domain 4
Nrap_D5aa 848–1003UCSCNrap protein PAP/OAS1-like domain 5
Nrap_D6aa 1005–1137UCSCNrap protein domain 6

Gene Aliases

HGNC Name

nucleolar protein 6

HGNC Alias Symbols

bA311H10.1; FLJ21959; MGC14896; MGC14921; MGC20838; UTP22

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022917.5
p.P3Q
c.8C>A
Surrounding Variants
1 paper
NM_022917.5
p.G26G
c.78C>A
1 paper
NM_022917.5
p.G28S
c.82G>A
1 paper
NM_022917.5
p.A34delFs
c.102delT
1 paper
NM_022917.5
p.R39H
c.116G>A
1 paper
NM_022917.5
p.R57T
c.170G>C
1 paper
NM_022917.5
p.R71H
c.212G>A
1 paper
NM_022917.5
p.E74Q
c.220G>C
1 paper
NM_022917.5
p.T75I
c.224C>T
1 paper
NM_022917.5
p.S81F
c.242C>T
1 paper
NM_022917.5
p.S81S
c.243C>T
1 paper
NM_022917.5
p.S98L
c.293C>T
1 paper
NM_022917.5
p.K102del1
c.304_305delCTT
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