Varaico: Literature-Extracted Genetic Variants

Gene:NUP93
Variant:p.L414L

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.L414L
c.1240C>T
Surrounding Variants
1 paper
NM_014669.5
p.D412A
c.1235A>C
1 paper
NM_014669.5
p.E411D
c.1233G>C
1 paper
NM_014669.5
p.E411D
c.1233G>T
19 papers
NM_014669.5
p.R388W
c.1162C>T
1 paper
NM_014669.5
p.T383A
c.1147A>G
1 paper
NM_014669.5
p.R376C
c.1126C>T
1 paper
NM_014669.5
p.E368K
c.1102G>A
1 paper
NM_014669.5
p.T367M
c.1100C>T
1 paper
NM_014669.5
p.K417_L418Splc
c.1252-46C>T
1 paper
NM_014669.5
p.N419S
c.1256A>G
2 papers
NM_014669.5
p.V421L
c.1261G>C
2 papers
NM_014669.5
p.V421L
c.1261G>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."