Varaico: Literature-Extracted Genetic Variants

Gene:NUP93
Variant:p.E576K

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.E576K
c.1726G>A
Surrounding Variants
4 papers
NM_014669.5
p.R578*
c.1732C>T
1 paper
NM_014669.5
p.R578Q
c.1733G>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
1 paper
NM_014669.5
p.E563K
c.1687G>A
1 paper
NM_014669.5
p.Q561*
c.1681C>T
1 paper
NM_014669.5
p.S560N
c.1679G>A
1 paper
NM_014669.5
p.D556Y
c.1666G>T
1 paper
NM_014669.5
p.F553C
c.1658T>G
5 papers
NM_014669.5
p.Y552C
c.1655A>G
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