Varaico: Literature-Extracted Genetic Variants

Gene:NUSAP1
Variant:p.Q382delFs

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
Selected Variant
1 paper
NM_016359.5
p.Q382delFs
c.1144_1145delCA
Surrounding Variants
1 paper
NM_016359.5
p.S383delFs
c.1147_1148delTC
1 paper
NM_016359.5
p.K376R
c.1127A>G
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.G375V
c.1124G>T
1 paper
NM_016359.5
p.T328I
c.983C>T
1 paper
NM_016359.5
p.L321delFs
c.961_962delCT
1 paper
NM_016359.5
p.K316R
c.947A>G
1 paper
NM_016359.5
p.P301L
c.902C>T
1 paper
NM_016359.5
p.P301S
c.901C>T
1 paper
NM_016359.5
p.T298I
c.893C>T
1 paper
NM_016359.5
p.D290H
c.868G>C
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