Varaico: Literature-Extracted Genetic Variants

Gene:NUP93
Variant:p.Y192C

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
9 papers
NM_014669.5
p.Y192C
c.575A>G
Surrounding Variants
1 paper
NM_014669.5
p.K195K
c.585A>G
1 paper
NM_014669.5
p.Q188_I189Splc
c.565-2A>G
1 paper
NM_014669.5
p.Q202*
c.604C>T
1 paper
NM_014669.5
p.Q202Q
c.606G>A
1 paper
NM_014669.5
p.L205P
c.614T>C
1 paper
NM_014669.5
p.D207E
c.621C>A
1 paper
NM_014669.5
p.D207E
c.621C>G
1 paper
NM_014669.5
p.S211T
c.631T>A
1 paper
NM_014669.5
p.A213S
c.637G>T
1 paper
NM_014669.5
p.E214K
c.640G>A
2 papers
NM_014669.5
p.V227V
c.681A>T
1 paper
NM_014669.5
p.Q229*
c.685C>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."