Varaico: Literature-Extracted Genetic Variants

Gene:IPO5
Variant:p.C110S

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.C110S
c.328T>A
Surrounding Variants
1 paper
NM_002271.6
p.C110S
c.329G>C
1 paper
NM_002271.6
p.A117T
c.349G>A
1 paper
NM_002271.6
p.M99I
c.297G>A
1 paper
NM_002271.6
p.I96N
c.287T>A
1 paper
NM_002271.6
p.S72F
c.215C>T
1 paper
NM_002271.6
p.I42V
c.124A>G
1 paper
NM_002271.6
p.Q39R
c.116A>G
1 paper
NM_002271.6
p.D122_E123del1
c.366_368delTGA
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
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