Varaico: Literature-Extracted Genetic Variants

Gene:NOL8

NOL8

56 papers

RefSeq Summary

NOL8 binds Ras-related GTP-binding proteins (see MIM 608267) and plays a role in cell growth (Sekiguchi et al., 2004 [PubMed 14660641]).[supplied by OMIM, Mar 2008].

Pfam Domains

RRM_1aa 10–83UCSCRNA recognition motif

Gene Aliases

HGNC Name

nucleolar protein 8

HGNC Previous Symbol

C9orf34

Papers
RefSeq ID
Protein change
DNA change
1–12 of 68 variants
1 paper
NM_017948.6
p.D23H
c.67G>C
1 paper
NM_017948.6
p.L24V
c.70C>G
1 paper
NM_017948.6
p.S35L
c.104C>T
1 paper
NM_017948.6
p.K74Q
c.220A>C
1 paper
NM_017948.6
p.K119N
c.357G>T
1 paper
NM_017948.6
p.K119N
c.357G>C
1 paper
NM_017948.6
p.D124N
c.370G>A
1 paper
NM_017948.6
p.H126N
c.376C>A
1 paper
NM_017948.6
p.E134K
c.400G>A
1 paper
NM_017948.6
p.R161H
c.482G>A
1 paper
NM_017948.6
p.F182L
c.544T>C
1 paper
NM_017948.6
p.F182L
c.546C>G
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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."