Varaico: Literature-Extracted Genetic Variants

Gene:NUP85

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
1–12 of 68 variants
5 papers
NM_024844.5
p.A477V
c.1430C>T
5 papers
NM_024844.5
p.R645W
c.1933C>T
3 papers
NM_024844.5
p.S65T
c.193T>A
3 papers
NM_024844.5
p.Q135_V136Splc
c.405+1G>A
3 papers
NM_024844.5
p.A581P
c.1741G>C
2 papers
NM_024844.5
p.L152I
c.454C>A
2 papers
NM_024844.5
p.L163I
c.487C>A
2 papers
NM_024844.5
p.R311Q
c.932G>A
2 papers
NM_024844.5
p.N370S
c.1109A>G
2 papers
NM_024844.5
p.R460Q
c.1379G>A
2 papers
NM_024844.5
p.M530T
c.1589T>C
1 paper
NM_024844.5
p.L12L
c.36G>A
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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."