Varaico: Literature-Extracted Genetic Variants

Gene:NUP62

NUP62

841 papers

RefSeq Summary

The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporin...

Pfam Domains

Nsp1_Caa 317–429UCSCNsp1-like C-terminal region

Gene Aliases

HGNC Name

nucleoporin 62

HGNC Alias Symbols

p62; DKFZp547L134; IBSN; SNDI; MGC841; FLJ20822; FLJ43869

Papers
RefSeq ID
Protein change
DNA change
1–12 of 283 variants
10 papers
NM_016553.5
p.L444P
c.1331T>C
9 papers
NM_016553.5
p.Q391P
c.1172A>C
6 papers
NM_016553.5
p.T128S
c.382A>T
6 papers
NM_016553.5
p.D405D
c.1215C>T
5 papers
NM_016553.5
p.G139S
c.415G>A
4 papers
NM_016553.5
p.A279T
c.835G>A
4 papers
NM_016553.5
p.L413F
c.1239G>T
4 papers
NM_016553.5
p.L413F
c.1239G>C
3 papers
NM_016553.5
p.G31G
c.93G>A
3 papers
NM_016553.5
p.G85R
c.253G>C
3 papers
NM_016553.5
p.G85R
c.253G>A
3 papers
NM_016553.5
p.G93A
c.278G>C
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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."