Varaico: Literature-Extracted Genetic Variants

Gene:NUP85
Variant:p.M475L

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.M475L
c.1423A>C
Surrounding Variants
1 paper
NM_024844.5
p.M475L
c.1423A>T
5 papers
NM_024844.5
p.A477V
c.1430C>T
1 paper
NM_024844.5
p.I472V
c.1414A>G
2 papers
NM_024844.5
p.M530T
c.1589T>C
1 paper
NM_024844.5
p.R534Q
c.1601G>A
2 papers
NM_024844.5
p.R460Q
c.1379G>A
1 paper
NM_024844.5
p.K452delFs
c.1355delA
1 paper
NM_024844.5
p.S408L
c.1223C>T
1 paper
NM_024844.5
p.R399T
c.1196G>C
1 paper
NM_024844.5
p.N391K
c.1173C>A
1 paper
NM_024844.5
p.N391K
c.1173C>G
2 papers
NM_024844.5
p.N370S
c.1109A>G
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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."