Varaico: Literature-Extracted Genetic Variants

Gene:NUSAP1

NUSAP1

41 papers

RefSeq Summary

NUSAP1 is a nucleolar-spindle-associated protein that plays a role in spindle microtubule organization (Raemaekers et al., 2003 [PubMed 12963707]).[supplied by OMIM, Jun 2009].

Pfam Domains

NUSAPaa 158–436UCSCNucleolar and spindle-associated protein

Gene Aliases

HGNC Name

nucleolar and spindle associated protein 1

HGNC Alias Symbols

FLJ13421; ANKT; SAPL; BM037; PRO0310p1; Q0310

Papers
RefSeq ID
Protein change
DNA change
1–12 of 30 variants
3 papers
NM_016359.5
p.Y403*
c.1209C>A
3 papers
NM_016359.5
p.Y403*
c.1209C>G
1 paper
NM_016359.5
p.P4H
c.11C>A
1 paper
NM_016359.5
p.P4P
c.12C>T
1 paper
NM_016359.5
p.S5Y
c.14C>A
1 paper
NM_016359.5
p.E7Q
c.19G>C
1 paper
NM_016359.5
p.K13R
c.38A>G
1 paper
NM_016359.5
p.T33delins
c.97_98delinsGA
1 paper
NM_016359.5
p.K44R
c.131A>G
1 paper
NM_016359.5
p.D98V
c.293A>T
1 paper
NM_016359.5
p.T114delFs
c.340delA
1 paper
NM_016359.5
p.T114fs
c.340_341fs
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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."