Varaico: Literature-Extracted Genetic Variants

Gene:NUP85
Variant:p.L152I

NUP85

76 papers

RefSeq Summary

This gene encodes a protein component of the Nup107-160 subunit of the nuclear pore complex. Nuclear pore complexes are embedded in the nuclear envelope and promote bidirectional transport of macromol...

Pfam Domains

Nucleopor_Nup85aa 53–606UCSCNup85 Nucleoporin

Gene Aliases

HGNC Name

nucleoporin 85

HGNC Alias Symbols

NUP75; FLJ12549

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_024844.5
p.L152I
c.454C>A
Surrounding Variants
1 paper
NM_024844.5
p.I154V
c.460A>G
1 paper
NM_024844.5
p.P158S
c.472C>T
1 paper
NM_024844.5
p.I145S
c.434T>G
2 papers
NM_024844.5
p.L163I
c.487C>A
1 paper
NM_024844.5
p.R171W
c.511C>T
1 paper
NM_024844.5
p.L180S
c.539T>C
1 paper
NM_024844.5
p.P190A
c.568C>G
3 papers
NM_024844.5
p.Q135_V136Splc
c.405+1G>A
1 paper
NM_024844.5
p.P126S
c.376C>T
1 paper
NM_024844.5
p.R106Q
c.317G>A
1 paper
NM_024844.5
p.V101V
c.303G>A
1 paper
NM_024844.5
p.Q97Splc
c.290+1G>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."