Varaico: Literature-Extracted Genetic Variants

Gene:NUP62
Variant:p.L444P

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
10 papers
NM_016553.5
p.L444P
c.1331T>C
Surrounding Variants
1 paper
NM_016553.5
p.A442_R446del5
c.1324_1337del15
1 paper
NM_016553.5
p.M447_A448del2
c.1339_1343del6
1 paper
NM_016553.5
p.D450A
c.1349A>C
1 paper
NM_016553.5
p.E438K
c.1312G>A
1 paper
NM_016553.5
p.K452Q
c.1354A>C
1 paper
NM_016553.5
p.D453Y
c.1357G>T
1 paper
NM_016553.5
p.K435Q
c.1303A>C
1 paper
NM_016553.5
p.Y434insFs
c.1302dupC
1 paper
NM_016553.5
p.Y434C
c.1301A>G
1 paper
NM_016553.5
p.I455del1
c.1363_1364delGAT
1 paper
NM_016553.5
p.R430H
c.1289G>A
1 paper
NM_016553.5
p.E429*
c.1285G>T
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