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

2 papers

NM_022917.5

p.T1060M

c.3179C>T

Surrounding Variants

1 paper

NM_022917.5

p.V1049M

c.3145G>A

1 paper

NM_022917.5

p.M1047L

c.3139A>T

1 paper

NM_022917.5

p.M1047L

c.3139A>C

1 paper

NM_022917.5

p.S1015F

c.3044C>T

2 papers

NM_022917.5

p.D1009N

c.3025G>A

1 paper

NM_022917.5

p.Q1076P

c.3227A>C

1 paper

NM_022917.5

p.G1083D

c.3248G>A

1 paper

NM_022917.5

p.R1104H

c.3311G>A

1 paper

NM_022917.5

p.R1109Q

c.3326G>A

1 paper

NM_022917.5

p.A1139T

c.3415G>A

1 paper

NM_022917.5

p.P952P

c.2856C>A

1 paper

NM_022917.5

p.T951I

c.2852C>T