Varaico: Literature-Extracted Genetic Variants

Gene:IPO5
Variant:p.E694*

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.E694*
c.2080G>T
Surrounding Variants
1 paper
NM_002271.6
p.T700T
c.2100C>A
1 paper
NM_002271.6
p.E701G
c.2102A>G
1 paper
NM_002271.6
p.A724A
c.2172G>A
1 paper
NM_002271.6
p.A752D
c.2255C>A
1 paper
NM_002271.6
p.H771N
c.2311C>A
1 paper
NM_002271.6
p.S772Y
c.2315C>A
1 paper
NM_002271.6
p.A681T
c.2041G>A
1 paper
NM_002271.6
p.D654V
c.1961A>T
1 paper
NM_002271.6
p.G628V
c.1883G>T
1 paper
NM_002271.6
p.E803Q
c.2407G>C
1 paper
NM_002271.6
p.L584L
c.1752G>A
1 paper
NM_002271.6
p.E525Q
c.1573G>C
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