Varaico: Literature-Extracted Genetic Variants

Gene:NUP93
Variant:p.D425V

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.D425V
c.1274A>T
Surrounding Variants
1 paper
NM_014669.5
p.D425N
c.1273G>A
1 paper
NM_014669.5
p.D426N
c.1276G>A
2 papers
NM_014669.5
p.V421L
c.1261G>C
2 papers
NM_014669.5
p.V421L
c.1261G>T
1 paper
NM_014669.5
p.N419S
c.1256A>G
5 papers
NM_014669.5
p.D433delFs
c.1298delA
3 papers
NM_014669.5
p.D433fs
c.1297_1298fs
1 paper
NM_014669.5
p.D433A
c.1298A>C
1 paper
NM_014669.5
p.R434K
c.1301G>A
1 paper
NM_014669.5
p.R434T
c.1301G>C
2 papers
NM_014669.5
p.F440S
c.1319T>C
6 papers
NM_014669.5
p.K442fs
c.1324_1325fs
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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."