Varaico: Literature-Extracted Genetic Variants

Gene:NUP62
Variant:p.P470S

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.P470S
c.1408C>T
Surrounding Variants
1 paper
NM_016553.5
p.S468_D469del0
c.1402_1407del6
1 paper
NM_016553.5
p.P470_L471del1
c.1410_1412delAGT
1 paper
NM_016553.5
p.T467I
c.1400C>T
1 paper
NM_016553.5
p.A465P
c.1393G>C
1 paper
NM_016553.5
p.I477N
c.1430T>A
1 paper
NM_016553.5
p.L478F
c.1432C>T
1 paper
NM_016553.5
p.I455del1
c.1363_1364delGAT
1 paper
NM_016553.5
p.D453Y
c.1357G>T
1 paper
NM_016553.5
p.K452Q
c.1354A>C
1 paper
NM_016553.5
p.D450A
c.1349A>C
2 papers
NM_016553.5
p.Q490*
c.1468C>T
1 paper
NM_016553.5
p.M447_A448del2
c.1339_1343del6
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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."