Varaico: Literature-Extracted Genetic Variants

Gene:NUP107

NUP107

124 papers

RefSeq Summary

This gene encodes a member of the nucleoporin family. The protein is localized to the nuclear rim and is an essential component of the nuclear pore complex (NPC). All molecules entering or leaving the...

Pfam Domains

Nup84_Nup100aa 209–908UCSCNuclear pore protein 84 / 107

Gene Aliases

HGNC Name

nucleoporin 107

HGNC Alias Symbol

NUP84

Papers
RefSeq ID
Protein change
DNA change
1–12 of 149 variants
16 papers
NM_020401.4
p.M101I
c.303G>A
14 papers
NM_020401.4
p.M101I
c.303G>C
14 papers
NM_020401.4
p.M101I
c.303G>T
8 papers
NM_020401.4
p.D447N
c.1339G>A
8 papers
NM_020401.4
p.D831A
c.2492A>C
7 papers
NM_020401.4
p.R355C
c.1063C>T
5 papers
NM_020401.4
p.E360_E361delFs
c.1079_1083del5
4 papers
NM_020401.4
p.D157Y
c.469G>T
3 papers
NM_020401.4
p.R54Q
c.161G>A
3 papers
NM_020401.4
p.E341insFs
c.1021dupG
3 papers
NM_020401.4
p.R355H
c.1064G>A
3 papers
NM_020401.4
p.E360fs
c.1078_1079fs
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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."