Varaico: Literature-Extracted Genetic Variants

Gene:NUP85
Variant:p.R311Q

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.R311Q
c.932G>A
Surrounding Variants
1 paper
NM_024844.5
p.L312V
c.934C>G
2 papers
NM_001330472.2
p.D245D
c.735C>T
NM_024844.5
p.D290D
c.870C>T
1 paper
NM_024844.5
p.A275T
c.823G>A
1 paper
NM_024844.5
p.Y268H
c.802T>C
1 paper
NM_024844.5
p.R267W
c.799C>T
1 paper
NM_024844.5
p.V360_I361delFs
c.1079_1083del5
1 paper
NM_024844.5
p.H260Q
c.780C>A
1 paper
NM_024844.5
p.H260Q
c.780C>G
1 paper
NM_024844.5
p.L254L
c.760C>T
1 paper
NM_024844.5
p.Q249K
c.745C>A
1 paper
NM_024844.5
p.Q249E
c.745C>G
1 paper
NM_024844.5
p.P245P
c.735C>T
NM_001330472.2
p.P200P
c.600C>T
NM_001303276.2
p.P199P
c.597C>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."