Varaico: Literature-Extracted Genetic Variants

Gene:NUP93
Variant:p.R245L

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
1 paper
NM_014669.5
p.R245L
c.734G>T
Surrounding Variants
1 paper
NM_014669.5
p.R245ins1
c.733_734insGCA
1 paper
NM_014669.5
p.S247_V248insS
c.739_743ins3
1 paper
NM_014669.5
p.K243Q
c.727A>C
6 papers
NM_014669.5
p.K243*
c.727A>T
1 paper
NM_014669.5
p.V248L
c.742G>C
1 paper
NM_014669.5
p.V248L
c.742G>T
1 paper
NM_014669.5
p.T239M
c.716C>T
1 paper
NM_014669.5
p.R251H
c.752G>A
1 paper
NM_014669.5
p.L235L
c.705G>A
1 paper
NM_014669.5
p.Q229*
c.685C>T
2 papers
NM_014669.5
p.V227V
c.681A>T
1 paper
NM_014669.5
p.E263Q
c.787G>C
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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."