Varaico: Literature-Extracted Genetic Variants

KPNB1

79 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

IBN_Naa 21–101UCSCImportin-beta N-terminal domain

Armaa 399–437UCSCArmadillo/beta-catenin-like repeat

TPR_IMB1aa 451–851UCSCImportin subunit beta-1-like, TPR repeats

Gene Aliases

HGNC Name

karyopherin subunit beta 1

HGNC Alias Symbols

NTF97; IPOB; MGC2155; MGC2156; MGC2157; IMB1; Impnb

Papers

RefSeq ID

Protein change

DNA change

1–12 of 63 variants

2 papers

NM_002265.6

p.P70A

c.208C>G

1 paper

NM_002265.6

p.P13L

c.38C>T

1 paper

NM_002265.6

p.D14Splc

c.41-2A>G

1 paper

NM_002265.6

p.L33R

c.98T>G

1 paper

NM_002265.6

p.V43A

c.128T>C

1 paper

NM_002265.6

p.A53D

c.158C>A

1 paper

NM_002265.6

p.K68_Q77del0

c.202_231del30

1 paper

NM_002265.6

p.D84E

c.252T>A

1 paper

NM_002265.6

p.D84E

c.252T>G

1 paper

NM_002265.6

p.E102Q

c.304G>C

1 paper

NM_002265.6

p.Q111*

c.331C>T

1 paper

NM_002265.6

p.P131H

c.392C>A