Varaico: Literature-Extracted Genetic Variants

Gene:NUP62
Variant:p.T234A

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.T234A
c.700A>G
Surrounding Variants
1 paper
NM_016553.5
p.A228_P229del2
c.682_686del6
1 paper
NM_016553.5
p.P229S
c.685C>T
1 paper
NM_016553.5
p.A228V
c.683C>T
1 paper
NM_016553.5
p.L239L
c.717C>A
1 paper
NM_016553.5
p.C240delFs
c.720delA
1 paper
NM_016553.5
p.P242S
c.724C>T
1 paper
NM_016553.5
p.L221delFs
c.662_663delGA
1 paper
NM_016553.5
p.A246S
c.736G>T
1 paper
NM_016553.5
p.S220delFs
c.660delG
1 paper
NM_016553.5
p.G247D
c.740G>A
1 paper
NM_016553.5
p.A248A
c.744C>T
1 paper
NM_016553.5
p.G218delFs
c.654delC
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