Varaico: Literature-Extracted Genetic Variants

Gene:NUP62
Variant:p.T128S

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
6 papers
NM_016553.5
p.T128S
c.382A>T
Surrounding Variants
1 paper
NM_016553.5
p.S127I
c.380G>T
1 paper
NM_016553.5
p.T130S
c.388A>T
1 paper
NM_016553.5
p.Q133L
c.398A>T
1 paper
NM_016553.5
p.G134A
c.401G>C
1 paper
NM_016553.5
p.N120insFs
c.359dupA
1 paper
NM_016553.5
p.A136V
c.407C>T
1 paper
NM_016553.5
p.S119G
c.355A>G
1 paper
NM_016553.5
p.P137L
c.410C>T
1 paper
NM_016553.5
p.T135_P137delFs
c.405_409del5
1 paper
NM_016553.5
p.S118N
c.353G>A
1 paper
NM_016553.5
p.T138A
c.412A>G
1 paper
NM_016553.5
p.T138insFs
c.412_413insT
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