Varaico: Literature-Extracted Genetic Variants

TNPO1

450 papers

RefSeq Summary

This gene encodes the beta subunit of the karyopherin receptor complex which interacts with nuclear localization signals to target nuclear proteins to the nucleus. The karyopherin receptor complex is ...

Pfam Domains

IBN_Naa 33–101UCSCImportin-beta N-terminal domain

TPR_IPO5aa 105–260UCSCIPO5-like, TPR repeats

HEAT_EZaa 411–465UCSCHEAT-like repeat

TPR_IMB1aa 646–820UCSCImportin subunit beta-1-like, TPR repeats

Gene Aliases

HGNC Name

transportin 1

HGNC Previous Symbol

KPNB2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 200 variants

14 papers

NM_002270.4

p.P33S

c.97C>T

10 papers

NM_002270.4

p.R213delFs

c.638delG

9 papers

NM_002270.4

p.M1T

c.2T>C

9 papers

NM_002270.4

p.P525L

c.1574C>T

8 papers

NM_002270.4

p.L113L

c.337C>T

7 papers

NM_002270.4

p.D177G

c.530A>G

7 papers

NM_002270.4

p.V203fs

c.607_608fs

7 papers

NM_002270.4

p.G233D

c.698G>A

3 papers

NM_002270.4

p.W134C

c.402G>T

3 papers

NM_002270.4

p.S167delFs

c.500delC

3 papers

NM_002270.4

p.R463C

c.1387C>T

2 papers

NM_002270.4

p.Q38H

c.114G>C