Varaico: Literature-Extracted Genetic Variants

Gene:NUP62
Variant:p.P210delFs

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.P210delFs
c.629delG
Surrounding Variants
2 papers
NM_016553.5
p.T209K
c.626C>A
1 paper
NM_016553.5
p.P192_A206del15
c.574_617del45
1 paper
NM_016553.5
p.G218delFs
c.654delC
1 paper
NM_016553.5
p.A202A
c.606C>G
1 paper
NM_016553.5
p.S220delFs
c.660delG
1 paper
NM_016553.5
p.T199_A200delFs
c.597_598delCT
1 paper
NM_016553.5
p.L221delFs
c.662_663delGA
1 paper
NM_016553.5
p.A196delFs
c.587_588delTG
1 paper
NM_016553.5
p.T194T
c.582G>A
1 paper
NM_016553.5
p.T194M
c.581C>T
2 papers
NM_016553.5
p.T194fs
c.580_581fs
1 paper
NM_016553.5
p.A228V
c.683C>T
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