Varaico: Literature-Extracted Genetic Variants

Gene:IPO5
Variant:p.D122_E123del1

IPO5

55 papers

RefSeq Summary

Nucleocytoplasmic transport, a signal- and energy-dependent process, takes place through nuclear pore complexes embedded in the nuclear envelope. The import of proteins containing a nuclear localizati...

Pfam Domains

TPR_IPO5aa 101–261UCSCIPO5-like, TPR repeats
Importin_rep_4aa 268–357UCSCImportin repeat
HEATaa 400–430UCSCHEAT repeat
TPR_IMB1aa 478–651UCSCImportin subunit beta-1-like, TPR repeats
Importin_rep_6aa 765–874UCSCImportin repeat 6
HEATaa 906–936UCSCHEAT repeat

Gene Aliases

HGNC Name

importin 5

HGNC Previous Symbols

KPNB3; RANBP5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002271.6
p.D122_E123del1
c.366_368delTGA
Surrounding Variants
1 paper
NM_002271.6
p.G132D
c.395G>A
1 paper
NM_002271.6
p.L133*
c.398T>A
1 paper
NM_002271.6
p.N144K
c.432T>A
1 paper
NM_002271.6
p.W156Splc
c.468-2A>T
1 paper
NM_002271.6
p.H186R
c.557A>G
1 paper
NM_002271.6
p.A194D
c.581C>A
1 paper
NM_002271.6
p.A196D
c.587C>A
1 paper
NM_002271.6
p.A198D
c.593C>A
1 paper
NM_002271.6
p.L202F
c.604C>T
1 paper
NM_002271.6
p.L210M
c.628C>A
1 paper
NM_002271.6
p.D216A
c.647A>C
1 paper
NM_002271.6
p.L217S
c.650T>C
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