Varaico: Literature-Extracted Genetic Variants

Gene:NUP133
Variant:p.Q406R

NUP133

134 papers

RefSeq Summary

The nuclear envelope creates distinct nuclear and cytoplasmic compartments in eukaryotic cells. It consists of two concentric membranes perforated by nuclear pores, large protein complexes that form a...

Pfam Domains

Nucleoporin_Caa 724–1065UCSCNon-repetitive/WGA-negative nucleoporin C-terminal

Gene Aliases

HGNC Name

nucleoporin 133

HGNC Alias Symbol

FLJ10814

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_018230.3
p.Q406R
c.1217A>G
Surrounding Variants
1 paper
NM_018230.3
p.Q406*
c.1216C>T
1 paper
NM_018230.3
p.V409A
c.1226T>C
8 papers
NM_018230.3
p.S399F
c.1196C>T
1 paper
NM_018230.3
p.S413L
c.1238C>T
1 paper
NM_018230.3
p.L419V
c.1255C>G
1 paper
NM_018230.3
p.E422K
c.1264G>A
1 paper
NM_018230.3
p.V425A
c.1274T>C
1 paper
NM_018230.3
p.C428Y
c.1283G>A
1 paper
NM_018230.3
p.L437P
c.1310T>C
2 papers
NM_018230.3
p.P438R
c.1313C>G
1 paper
NM_018230.3
p.G448R
c.1342G>A
1 paper
NM_018230.3
p.G448R
c.1342G>C
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