Varaico: Literature-Extracted Genetic Variants

Gene:IPO13
Variant:p.S258N

IPO13

69 papers

RefSeq Summary

This gene encodes a member of the importin-beta family of nuclear transport proteins. The encoded protein mediates the import of specific cargo proteins from the cytoplasm to the nucleus and is depend...

Pfam Domains

IBN_Naa 45–111UCSCImportin-beta N-terminal domain
Xpo1aa 116–263UCSCExportin 1-like protein
TPR_TNPO3_IPO13_2ndaa 300–399UCSCTransportin-3/Importin-13 second TPR domain
Importin_repaa 402–441UCSCImportin 13 repeat
TPR_TNPO3_IPO13_3rdaa 485–572UCSCTransportin-3/Importin-13 third TPR domain
Importin_rep_2aa 584–627UCSCImportin 13 repeat

Gene Aliases

HGNC Name

importin 13

HGNC Alias Symbols

IMP13; KIAA0724; RANBP13

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014652.4
p.S258N
c.773G>A
Surrounding Variants
1 paper
NM_014652.4
p.E254G
c.761A>G
1 paper
NM_014652.4
p.I267M
c.801C>G
1 paper
NM_014652.4
p.S268L
c.803C>T
1 paper
NM_014652.4
p.A241V
c.722C>T
3 papers
NM_014652.4
p.R219C
c.655C>T
1 paper
NM_014652.4
p.S214L
c.641C>T
1 paper
NM_014652.4
p.G199E
c.596G>A
1 paper
NM_014652.4
p.C198G
c.592T>G
1 paper
NM_014652.4
p.L189V
c.565C>G
1 paper
NM_014652.4
p.G188G
c.564C>T
1 paper
NM_014652.4
p.R181C
c.541C>T
1 paper
NM_014652.4
p.R162H
c.485G>A
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