Varaico: Literature-Extracted Genetic Variants

Gene:NUP62
Variant:p.F42L

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.F42L
c.126T>G
Surrounding Variants
1 paper
NM_016553.5
p.F42L
c.126T>A
1 paper
NM_016553.5
p.F42Y
c.125T>A
1 paper
NM_016553.5
p.F42insFs
c.125dupT
1 paper
NM_016553.5
p.F42L
c.124T>C
1 paper
NM_016553.5
p.A46T
c.136G>A
1 paper
NM_016553.5
p.A46A
c.138T>A
1 paper
NM_016553.5
p.F34_P47delFs
c.102_139del38
1 paper
NM_016553.5
p.S37delFs
c.109delA
1 paper
NM_016553.5
p.Q49K
c.145C>A
1 paper
NM_016553.5
p.T52A
c.154A>G
3 papers
NM_016553.5
p.G31G
c.93G>A
1 paper
NM_016553.5
p.T30_G31insFs
c.90_91ins4
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