Varaico: Literature-Extracted Genetic Variants

Gene:NUP93
Variant:p.A475T

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
4 papers
NM_014669.5
p.A475T
c.1423G>A
Surrounding Variants
1 paper
NM_014669.5
p.A470V
c.1409C>T
1 paper
NM_014669.5
p.R481C
c.1441C>T
3 papers
NM_014669.5
p.H488R
c.1463A>G
1 paper
NM_014669.5
p.L461V
c.1381C>G
1 paper
NM_014669.5
p.H491L
c.1472A>T
3 papers
NM_014669.5
p.H491Q
c.1473T>A
4 papers
NM_014669.5
p.H491Q
c.1473T>G
1 paper
NM_014669.5
p.T454M
c.1361C>T
1 paper
NM_014669.5
p.L496L
c.1488G>T
1 paper
NM_014669.5
p.S451C
c.1352C>G
1 paper
NM_014669.5
p.E450K
c.1348G>A
1 paper
NM_014669.5
p.L503F
c.1509A>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."