Varaico: Literature-Extracted Genetic Variants

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.C151Y

c.452G>A

Surrounding Variants

1 paper

NM_022917.5

p.R138*

c.412C>T

1 paper

NM_022917.5

p.P134L

c.401C>T

1 paper

NM_022917.5

p.L133R

c.398T>G

1 paper

NM_022917.5

p.R173*

c.517C>T

1 paper

NM_022917.5

p.L189R

c.566T>G

1 paper

NM_022917.5

p.R201C

c.601C>T

1 paper

NM_022917.5

p.K202R

c.605A>G

1 paper

NM_022917.5

p.K244K

c.732G>A

1 paper

NM_022917.5

p.R247C

c.739C>T

1 paper

NM_022917.5

p.R252H

c.755G>A

1 paper

NM_022917.5

p.P258S

c.772C>T

1 paper

NM_022917.5

p.R263C

c.787C>T