Varaico: Literature-Extracted Genetic Variants

Gene:NUP93
Variant:p.L695*

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.L695*
c.2084T>A
Surrounding Variants
7 papers
NM_014669.5
p.L695S
c.2084T>C
3 papers
NM_014669.5
p.F699L
c.2095T>C
3 papers
NM_014669.5
p.F699L
c.2097T>A
3 papers
NM_014669.5
p.F699L
c.2097T>G
1 paper
NM_014669.5
p.D700N
c.2098G>A
1 paper
NM_014669.5
p.E701K
c.2101G>A
1 paper
NM_014669.5
p.G705S
c.2113G>A
2 papers
NM_014669.5
p.A681T
c.2041G>A
7 papers
NM_014669.5
p.D712_I713Splc
c.2137-18G>A
1 paper
NM_014669.5
p.I713fs
c.2137_2138fs
2 papers
NM_014669.5
p.I714T
c.2141T>C
1 paper
NM_014669.5
p.E725Q
c.2173G>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."