Varaico: Literature-Extracted Genetic Variants

Gene:NUP62
Variant:p.P28S

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.P28S
c.82C>T
Surrounding Variants
1 paper
NM_016553.5
p.A29S
c.85G>T
1 paper
NM_016553.5
p.T26I
c.77C>T
1 paper
NM_016553.5
p.T25K
c.74C>A
1 paper
NM_016553.5
p.T30_G31insFs
c.90_91ins4
3 papers
NM_016553.5
p.G31G
c.93G>A
2 papers
NM_016553.5
p.A24G
c.71C>G
1 paper
NM_016553.5
p.A21P
c.61G>C
1 paper
NM_016553.5
p.G19C
c.55G>T
1 paper
NM_016553.5
p.S37delFs
c.109delA
1 paper
NM_016553.5
p.T17M
c.50C>T
1 paper
NM_016553.5
p.T17K
c.50C>A
1 paper
NM_016553.5
p.G15A
c.44G>C
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