Varaico: Literature-Extracted Genetic Variants

Gene:NUP62
Variant:p.T282fs

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.T282fs
c.844_845fs
Surrounding Variants
1 paper
NM_016553.5
p.S283T
c.848G>C
1 paper
NM_016553.5
p.T282P
c.844A>C
1 paper
NM_016553.5
p.S284delins
c.851delinsCCACCAG
1 paper
NM_016553.5
p.T280P
c.838A>C
4 papers
NM_016553.5
p.A279T
c.835G>A
1 paper
NM_016553.5
p.A275T
c.823G>A
1 paper
NM_016553.5
p.A291A
c.873C>G
1 paper
NM_016553.5
p.L292insFs
c.875_876insT
2 papers
NM_016553.5
p.S272A
c.814T>G
1 paper
NM_016553.5
p.K295R
c.884A>G
1 paper
NM_016553.5
p.P296L
c.887C>T
2 papers
NM_016553.5
p.T269A
c.805A>G
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