Varaico: Literature-Extracted Genetic Variants

Gene:NUP93
Variant:p.Q657_E661del5

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.Q657_E661del5
c.1969_1982del15
Surrounding Variants
1 paper
NM_014669.5
p.I653fs
c.1957_1958fs
2 papers
NM_014669.5
p.R662K
c.1985G>A
1 paper
NM_014669.5
p.V650A
c.1949T>C
1 paper
NM_014669.5
p.V650I
c.1948G>A
1 paper
NM_014669.5
p.L646L
c.1938G>C
1 paper
NM_014669.5
p.M666I
c.1998G>A
1 paper
NM_014669.5
p.M666I
c.1998G>C
1 paper
NM_014669.5
p.M666I
c.1998G>T
1 paper
NM_014669.5
p.M642I
c.1926G>A
1 paper
NM_014669.5
p.M642I
c.1926G>C
1 paper
NM_014669.5
p.M642I
c.1926G>T
3 papers
NM_014669.5
p.R673W
c.2017C>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."