Varaico: Literature-Extracted Genetic Variants

Gene:NUP62
Variant:p.F74F

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.F74F
c.222C>T
Surrounding Variants
1 paper
NM_016553.5
p.T75T
c.225T>A
1 paper
NM_016553.5
p.A68_T72delFs
c.204_214del11
1 paper
NM_016553.5
p.F76_G77delFs
c.228_229delCA
1 paper
NM_016553.5
p.T71T
c.213G>A
1 paper
NM_016553.5
p.A79S
c.235G>T
1 paper
NM_016553.5
p.Q70L
c.209A>T
2 papers
NM_016553.5
p.Q70R
c.209A>G
1 paper
NM_016553.5
p.Q70P
c.209A>C
1 paper
NM_016553.5
p.T64_T69del0
c.192_206del15
1 paper
NM_016553.5
p.T69A
c.205A>G
1 paper
NM_016553.5
p.A68insFs
c.203_204insC
1 paper
NM_016553.5
p.A68P
c.202G>C
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