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

1–12 of 70 variants

4 papers

NM_002266.4

p.P165R

c.494C>G

3 papers

NM_002266.4

p.P216S

c.646C>T

3 papers

NM_002266.4

p.V267V

c.801A>G

3 papers

NM_002266.4

p.L470V

c.1408T>G

2 papers

NM_002266.4

p.N86S

c.257A>G

2 papers

NM_002266.4

p.R285*

c.853C>T

2 papers

NM_002266.4

p.N319K

c.957T>A

2 papers

NM_002266.4

p.N319K

c.957T>G

1 paper

NM_002266.4

p.T9A

c.25A>G

1 paper

NM_002266.4

p.R13H

c.38G>A

1 paper

NM_002266.4

p.K18M

c.53A>T

1 paper

NM_002266.4

p.G21V

c.62G>T