Varaico: Literature-Extracted Genetic Variants

Gene:NUP62
Variant:p.Q417R

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.Q417R
c.1250A>G
Surrounding Variants
1 paper
NM_016553.5
p.G419E
c.1256G>A
1 paper
NM_016553.5
p.V414_G419del6
c.1240_1256del18
1 paper
NM_016553.5
p.V414L
c.1240G>C
4 papers
NM_016553.5
p.L413F
c.1239G>T
4 papers
NM_016553.5
p.L413F
c.1239G>C
2 papers
NM_016553.5
p.E412G
c.1235A>G
1 paper
NM_016553.5
p.E411D
c.1233G>T
1 paper
NM_016553.5
p.E411D
c.1233G>C
1 paper
NM_016553.5
p.E411K
c.1231G>A
1 paper
NM_016553.5
p.L410R
c.1229T>G
1 paper
NM_016553.5
p.D405_P409del5
c.1213_1226del15
1 paper
NM_016553.5
p.A426T
c.1276G>A
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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."