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.L550V

c.1648C>G

Surrounding Variants

1 paper

NM_022917.5

p.R580L

c.1739G>T

2 papers

NM_022917.5

p.R580H

c.1739G>A

1 paper

NM_022917.5

p.R591H

c.1772G>A

1 paper

NM_022917.5

p.R521W

c.1561C>T

1 paper

NM_022917.5

p.R488W

c.1462C>T

1 paper

NM_022917.5

p.L476L

c.1428C>T

1 paper

NM_022917.5

p.G647A

c.1940G>C

1 paper

NM_022917.5

p.S444F

c.1331C>T

2 papers

NM_022917.5

p.W674*

c.2021G>A

2 papers

NM_022917.5

p.W674*

c.2022G>A

1 paper

NM_022917.5

p.Q687H

c.2061G>T

1 paper

NM_022917.5

p.Q687H

c.2061G>C