Varaico: Literature-Extracted Genetic Variants

Gene:NUP85
Variant:p.Q97Splc

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
1 paper
NM_024844.5
p.Q97Splc
c.290+1G>T
Surrounding Variants
1 paper
NM_024844.5
p.K92I
c.275A>T
1 paper
NM_024844.5
p.T90I
c.269C>T
1 paper
NM_024844.5
p.G77*
c.229G>T
3 papers
NM_024844.5
p.S65T
c.193T>A
1 paper
NM_024844.5
p.K59K
c.177G>A
1 paper
NM_024844.5
p.E46A
c.137A>C
1 paper
NM_024844.5
p.L33R
c.98T>G
1 paper
NM_024844.5
p.G30E
c.89G>A
1 paper
NM_024844.5
p.P29A
c.85C>G
1 paper
NM_024844.5
p.L12L
c.36G>A
1 paper
NM_024844.5
p.V101V
c.303G>A
1 paper
NM_024844.5
p.R106Q
c.317G>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."