Varaico: Literature-Extracted Genetic Variants

Gene:NUP93
Variant:p.G591V

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
24 papers
NM_014669.5
p.G591V
c.1772G>T
Surrounding Variants
1 paper
NM_014669.5
p.G591E
c.1772G>A
1 paper
NM_014669.5
p.R593I
c.1778G>T
1 paper
NM_014669.5
p.K594fs
c.1780_1781fs
1 paper
NM_014669.5
p.K594delFs
c.1782delG
4 papers
NM_014669.5
p.I583M
c.1749T>G
1 paper
NM_014669.5
p.R578Q
c.1733G>A
4 papers
NM_014669.5
p.R578*
c.1732C>T
1 paper
NM_014669.5
p.E576K
c.1726G>A
1 paper
NM_014669.5
p.R568C
c.1702C>T
1 paper
NM_014669.5
p.M565I
c.1695G>A
1 paper
NM_014669.5
p.M565I
c.1695G>C
1 paper
NM_014669.5
p.M565I
c.1695G>T
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