Varaico: Literature-Extracted Genetic Variants

Gene:IPO8
Variant:p.H539Y

IPO8

67 papers

RefSeq Summary

The importin-alpha/beta complex and the GTPase Ran mediate nuclear import of proteins with a classical nuclear localization signal. The protein encoded by this gene is a member of a class of approxima...

Pfam Domains

IBN_Naa 22–102UCSCImportin-beta N-terminal domain
IBN_Naa 22–102UCSCImportin-beta N-terminal domain
Cse1aa 174–448UCSCCse1
Cse1aa 174–448UCSCCse1
TPR_IPO11aa 609–919UCSCImportin-11-like, TPR repeats

Gene Aliases

HGNC Name

importin 8

HGNC Previous Symbol

RANBP8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006390.4
p.H539Y
c.1615C>T
Surrounding Variants
1 paper
NM_006390.4
p.P542S
c.1624C>T
1 paper
NM_006390.4
p.E534Q
c.1600G>C
1 paper
NM_006390.4
p.K533N
c.1599G>T
1 paper
NM_006390.4
p.K533N
c.1599G>C
1 paper
NM_006390.4
p.D557Y
c.1669G>T
1 paper
NM_006390.4
p.D558Y
c.1672G>T
1 paper
NM_006390.4
p.L585_A586Splc
c.1755+9G>A
1 paper
NM_006390.4
p.Q529E
c.1585C>G
1 paper
NM_006390.4
p.V514L
c.1540G>C
1 paper
NM_006390.4
p.P513delFs
c.1538delG
1 paper
NM_006390.4
p.P513fs
c.1537_1538fs
1 paper
NM_006390.4
p.M512R
c.1535T>G
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