Varaico: Literature-Extracted Genetic Variants

Gene:NUP85
Variant:p.*657S

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.*657S
c.1970G>C
Surrounding Variants
5 papers
NM_024844.5
p.R645W
c.1933C>T
1 paper
NM_024844.5
p.L639P
c.1916T>C
1 paper
NM_024844.5
p.L635R
c.1904T>G
1 paper
NM_024844.5
p.E628Q
c.1882G>C
1 paper
NM_024844.5
p.T619I
c.1856C>T
1 paper
NM_024844.5
p.P612S
c.1834C>T
1 paper
NM_024844.5
p.P612fs
c.1834_1835fs
1 paper
NM_024844.5
p.F592S
c.1775T>C
3 papers
NM_024844.5
p.A581P
c.1741G>C
1 paper
NM_024844.5
p.M564T
c.1691T>C
1 paper
NM_024844.5
p.S562F
c.1685C>T
1 paper
NM_024844.5
p.R546C
c.1636C>T
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