Varaico: Literature-Extracted Genetic Variants

Gene:IPO13
Variant:p.D137D

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
2 papers
NM_014652.4
p.D137D
c.411C>T
Surrounding Variants
1 paper
NM_014652.4
p.P136S
c.406C>T
1 paper
NM_014652.4
p.M135I
c.405G>A
1 paper
NM_014652.4
p.M135I
c.405G>C
1 paper
NM_014652.4
p.M135I
c.405G>T
1 paper
NM_014652.4
p.P140S
c.418C>T
1 paper
NM_014652.4
p.V125M
c.373G>A
1 paper
NM_014652.4
p.R122W
c.364C>T
1 paper
NM_014652.4
p.I118T
c.353T>C
1 paper
NM_014652.4
p.S116F
c.347C>T
1 paper
NM_014652.4
p.R162H
c.485G>A
1 paper
NM_014652.4
p.R111C
c.331C>T
1 paper
NM_014652.4
p.I109I
c.327C>T
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