Varaico: Literature-Extracted Genetic Variants

Gene:NUP93
Variant:p.F553C

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.F553C
c.1658T>G
Surrounding Variants
5 papers
NM_014669.5
p.Y552C
c.1655A>G
1 paper
NM_014669.5
p.A547P
c.1639G>C
1 paper
NM_014669.5
p.P544R
c.1631C>G
1 paper
NM_014669.5
p.R537R
c.1611G>T
3 papers
NM_014669.5
p.R537W
c.1609C>T
4 papers
NM_014669.5
p.Y535*
c.1605C>A
5 papers
NM_014669.5
p.Y535*
c.1605C>G
1 paper
NM_014669.5
p.Y535S
c.1604A>C
1 paper
NM_014669.5
p.R530W
c.1588C>T
2 papers
NM_014669.5
p.R525Q
c.1574G>A
5 papers
NM_014669.5
p.R525W
c.1573C>T
3 papers
NM_014669.5
p.R524W
c.1570C>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."