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

1–12 of 82 variants

2 papers

NM_022917.5

p.Q344*

c.1030C>T

2 papers

NM_022917.5

p.Q380L

c.1139A>T

2 papers

NM_022917.5

p.R580H

c.1739G>A

2 papers

NM_022917.5

p.W674*

c.2021G>A

2 papers

NM_022917.5

p.W674*

c.2022G>A

2 papers

NM_022917.5

p.R715W

c.2143C>T

2 papers

NM_022917.5

p.R826C

c.2476C>T

2 papers

NM_022917.5

p.D1009N

c.3025G>A

2 papers

NM_022917.5

p.T1060M

c.3179C>T

1 paper

NM_022917.5

p.P3Q

c.8C>A

1 paper

NM_022917.5

p.G26G

c.78C>A

1 paper

NM_022917.5

p.G28S

c.82G>A