Varaico: Literature-Extracted Genetic Variants

Gene:NUP62
Variant:p.A426T

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.A426T
c.1276G>A
Surrounding Variants
1 paper
NM_016553.5
p.D427H
c.1279G>C
1 paper
NM_016553.5
p.T420_A426del7
c.1258_1277del21
1 paper
NM_016553.5
p.E429*
c.1285G>T
1 paper
NM_016553.5
p.R430H
c.1289G>A
1 paper
NM_016553.5
p.V414_G419del6
c.1240_1256del18
1 paper
NM_016553.5
p.G419E
c.1256G>A
1 paper
NM_016553.5
p.Y434C
c.1301A>G
1 paper
NM_016553.5
p.Q417R
c.1250A>G
1 paper
NM_016553.5
p.K435Q
c.1303A>C
1 paper
NM_016553.5
p.Y434insFs
c.1302dupC
1 paper
NM_016553.5
p.V414L
c.1240G>C
1 paper
NM_016553.5
p.E438K
c.1312G>A
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