Varaico: Literature-Extracted Genetic Variants

KPNA2

99 papers

RefSeq Summary

The import of proteins into the nucleus is a process that involves at least 2 steps. The first is an energy-independent docking of the protein to the nuclear envelope and the second is an energy-depen...

Pfam Domains

IBBaa 13–98UCSCImportin beta binding domain

Armaa 108–149UCSCArmadillo/beta-catenin-like repeat

Armaa 151–191UCSCArmadillo/beta-catenin-like repeat

Armaa 241–280UCSCArmadillo/beta-catenin-like repeat

Armaa 282–322UCSCArmadillo/beta-catenin-like repeat

Armaa 324–364UCSCArmadillo/beta-catenin-like repeat

Gene Aliases

HGNC Name

karyopherin subunit alpha 2

HGNC Previous Symbol

RCH1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002266.4

p.N86S

c.257A>G

Surrounding Variants

1 paper

NM_002266.4

p.D79N

c.235G>A

1 paper

NM_002266.4

p.Q95delFs

c.284delA

1 paper

NM_002266.4

p.N75T

c.224A>C

1 paper

NM_002266.4

p.A100V

c.299C>T

1 paper

NM_002266.4

p.S105A

c.313T>G

1 paper

NM_002266.4

p.R117W

c.349C>T

1 paper

NM_002266.4

p.R117Q

c.350G>A

1 paper

NM_002266.4

p.E139Q

c.415G>C

1 paper

NM_002266.4

p.S149P

c.445T>C

1 paper

NM_002266.4

p.A157S

c.469G>T

1 paper

NM_002266.4

p.V159I

c.475G>A

4 papers

NM_002266.4

p.P165R

c.494C>G