Varaico: Literature-Extracted Genetic Variants

Gene:NUP54
Variant:p.Q95delFs

NUP54

35 papers

RefSeq Summary

The nuclear envelope creates distinct nuclear and cytoplasmic compartments in eukaryotic cells. It consists of two concentric membranes perforated by nuclear pores, large protein complexes that form a...

Pfam Domains

Nup54aa 300–438UCSCNucleoporin complex subunit 54
Nup54_Caa 453–491UCSCNup54 C-terminal interacting domain

Gene Aliases

HGNC Name

nucleoporin 54

HGNC Previous Name

nucleoporin 54kDa

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017426.4
p.Q95delFs
c.284delT
Surrounding Variants
1 paper
NM_017426.4
p.T92_Q93ins0
c.276_278dupACA
1 paper
NM_017426.4
p.Q93ins1
c.278_279insACA
1 paper
NM_017426.4
p.G82A
c.245G>C
1 paper
NM_017426.4
p.T79A
c.235A>G
1 paper
NM_017426.4
p.Q57E
c.169C>G
1 paper
NM_017426.4
p.T31S
c.91A>T
1 paper
NM_017426.4
p.F28Y
c.83T>A
1 paper
NM_017426.4
p.P21S
c.61C>T
1 paper
NM_017426.4
p.P107S
c.319C>T
1 paper
NM_017426.4
p.I118T
c.353T>C
1 paper
NM_017426.4
p.T120I
c.359C>T
1 paper
NM_017426.4
p.A121_S122insFs
c.363_364insT
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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."