Varaico: Literature-Extracted Genetic Variants

Gene:NSA2

NSA2

13 papers

RefSeq Summary

This gene encodes a nucleolar protein involved in cell cycle regulation and proliferation. This gene was identified based on sequence similarity to a highly conserved Saccharomyces cerevisiae gene enc...

Pfam Domains

Ribosomal_S8eaa 34–259UCSCRibosomal protein S8e

Gene Aliases

HGNC Name

NSA2 ribosome biogenesis factor

HGNC Alias Symbols

HUSSY-29; HCLG1; FLJ94393; TINP1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 16 variants
1 paper
NM_014886.6
p.Y6H
c.16T>C
1 paper
NM_014886.6
p.Y20Y
c.60C>T
1 paper
NM_014886.6
p.M42fs
c.124_125fs
1 paper
NM_014886.6
p.L90V
c.268C>G
1 paper
NM_014886.6
p.R93delFs
c.277_278delAG
1 paper
NM_014886.6
p.R93fs
c.277_278fs
1 paper
NM_014886.6
p.E129V
c.386A>T
1 paper
NM_014886.6
p.L133F
c.399A>C
1 paper
NM_014886.6
p.L133F
c.399A>T
1 paper
NM_014886.6
p.K147K
c.441G>A
1 paper
NM_014886.6
p.R172S
c.516G>C
1 paper
NM_014886.6
p.R172S
c.516G>T
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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."