Varaico: Literature-Extracted Genetic Variants

Gene:NUP93
Variant:p.E14V

NUP93

219 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

Nic96aa 218–810UCSCNup93/Nic96

Gene Aliases

HGNC Name

nucleoporin 93

HGNC Alias Symbol

KIAA0095

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_014669.5
p.E14V
c.41A>T
Surrounding Variants
1 paper
NM_014669.5
p.E14D
c.42A>C
2 papers
NM_014669.5
p.E14D
c.42A>T
27 papers
NM_014669.5
p.E14K
c.40G>A
10 papers
NM_014669.5
p.Q15*
c.43C>T
1 paper
NM_014669.5
p.Q12K
c.34C>A
1 paper
NM_014669.5
p.Q11K
c.31C>A
1 paper
NM_014669.5
p.T20I
c.59C>T
1 paper
NM_014669.5
p.E21K
c.61G>A
1 paper
NM_014669.5
p.E25_L26delFs
c.73_76del4
2 papers
NM_014669.5
p.T3A
c.7A>G
1 paper
NM_014669.5
p.T3insFs
c.7dupA
1 paper
NM_014669.5
p.R31W
c.91C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."