Varaico: Literature-Extracted Genetic Variants

Gene:NUP62
Variant:p.T146insFs

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
Selected Variant
1 paper
NM_016553.5
p.T146insFs
c.437dupC
Surrounding Variants
1 paper
NM_016553.5
p.T146P
c.436A>C
1 paper
NM_016553.5
p.S148_V149delFs
c.442_446del5
1 paper
NM_016553.5
p.A150P
c.448G>C
1 paper
NM_016553.5
p.V149_A150delFs
c.447_448delCC
1 paper
NM_016553.5
p.F140_F142delFs
c.420_426del7
1 paper
NM_016553.5
p.P151S
c.451C>T
1 paper
NM_016553.5
p.F142L
c.426T>A
1 paper
NM_016553.5
p.F142Y
c.425T>A
1 paper
NM_016553.5
p.A152T
c.454G>A
1 paper
NM_016553.5
p.T138_F140del0
c.414_419del6
5 papers
NM_016553.5
p.G139S
c.415G>A
1 paper
NM_016553.5
p.T138A
c.412A>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."