Varaico: Literature-Extracted Genetic Variants

Gene:NUP62
Variant:p.G91delFs

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.G91delFs
c.271delC
Surrounding Variants
1 paper
NM_016553.5
p.G91E
c.272G>A
1 paper
NM_016553.5
p.G93S
c.277G>A
3 papers
NM_016553.5
p.G93A
c.278G>C
1 paper
NM_016553.5
p.G93D
c.278G>A
1 paper
NM_016553.5
p.L90*
c.269T>A
1 paper
NM_016553.5
p.L90_G91ins4
c.268_272ins12
2 papers
NM_016553.5
p.A94S
c.280G>T
1 paper
NM_016553.5
p.F88I
c.262T>A
1 paper
NM_016553.5
p.K96*
c.286A>T
1 paper
NM_016553.5
p.L97V
c.289C>G
1 paper
NM_016553.5
p.T86fs
c.256_257fs
1 paper
NM_016553.5
p.N98T
c.293A>C
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