Varaico: Literature-Extracted Genetic Variants

Gene:NUP62
Variant:p.M108delFs

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.M108delFs
c.324delC
Surrounding Variants
1 paper
NM_016553.5
p.A109P
c.325G>C
1 paper
NM_016553.5
p.M108delFs
c.322delT
1 paper
NM_016553.5
p.P106P
c.318A>T
1 paper
NM_016553.5
p.T105insFs
c.315dupC
2 papers
NM_016553.5
p.A104delFs
c.311_312delGG
1 paper
NM_016553.5
p.F114L
c.340T>C
1 paper
NM_016553.5
p.A104V
c.311C>T
1 paper
NM_016553.5
p.F114L
c.342T>G
1 paper
NM_016553.5
p.F114L
c.342T>A
1 paper
NM_016553.5
p.A103D
c.308C>A
1 paper
NM_016553.5
p.T102T
c.306A>T
1 paper
NM_016553.5
p.T102insFs
c.305dupC
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