Varaico: Literature-Extracted Genetic Variants

Gene:NUP62
Variant:p.A318V

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.A318V
c.953C>T
Surrounding Variants
1 paper
NM_016553.5
p.A318T
c.952G>A
1 paper
NM_016553.5
p.G315_A318delFs
c.944_953del10
1 paper
NM_016553.5
p.A319T
c.955G>A
1 paper
NM_016553.5
p.G321E
c.962G>A
2 papers
NM_016553.5
p.T311_A312del2
c.931_935del6
1 paper
NM_016553.5
p.A312delins
c.934_936delinsTGA
1 paper
NM_016553.5
p.A323_A324insFs
c.969_970insTT
1 paper
NM_016553.5
p.A324T
c.970G>A
1 paper
NM_016553.5
p.A324delFs
c.970_971delGC
1 paper
NM_016553.5
p.S325insFs
c.973dupA
1 paper
NM_016553.5
p.V310M
c.928G>A
1 paper
NM_016553.5
p.M328V
c.982A>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."