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

Selected Variant

1 paper

NM_002265.6

p.T195T

c.585G>A

Surrounding Variants

1 paper

NM_002265.6

p.L198F

c.592C>T

1 paper

NM_002265.6

p.N200K

c.600C>A

1 paper

NM_002265.6

p.N200K

c.600C>G

1 paper

NM_002265.6

p.T205N

c.614C>A

1 paper

NM_002265.6

p.K211T

c.632A>C

1 paper

NM_002265.6

p.A176V

c.527C>T

1 paper

NM_002265.6

p.S170P

c.508T>C

1 paper

NM_002265.6

p.A153T

c.457G>A

1 paper

NM_002265.6

p.T150P

c.448A>C

1 paper

NM_002265.6

p.Q132K

c.394C>A

1 paper

NM_002265.6

p.P131H

c.392C>A

1 paper

NM_002265.6

p.Q111*

c.331C>T