Varaico: Literature-Extracted Genetic Variants

Gene:NOL6
Variant:p.L818V

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.L818V
c.2452C>G
Surrounding Variants
1 paper
NM_022917.5
p.S811S
c.2433C>T
2 papers
NM_022917.5
p.R826C
c.2476C>T
1 paper
NM_022917.5
p.R801W
c.2401C>T
1 paper
NM_022917.5
p.T782T
c.2346G>A
1 paper
NM_022917.5
p.G774A
c.2321G>C
1 paper
NM_022917.5
p.V738V
c.2214T>G
1 paper
NM_022917.5
p.L844M
c.2530C>A
1 paper
NM_022917.5
p.P729A
c.2185C>G
2 papers
NM_022917.5
p.R715W
c.2143C>T
1 paper
NM_022917.5
p.P706L
c.2117C>T
1 paper
NM_022917.5
p.P893L
c.2678C>T
1 paper
NM_022917.5
p.Q687H
c.2061G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."