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

1 paper

NM_002266.4

p.D192A

c.575A>C

Surrounding Variants

1 paper

NM_002266.4

p.G204S

c.610G>A

3 papers

NM_002266.4

p.P216S

c.646C>T

1 paper

NM_002266.4

p.Y225*

c.675C>A

1 paper

NM_002266.4

p.Y225*

c.675C>G

1 paper

NM_002266.4

p.R238L

c.713G>T

1 paper

NM_002266.4

p.D247A

c.740A>C

1 paper

NM_002266.4

p.D247E

c.741T>A

1 paper

NM_002266.4

p.D247E

c.741T>G

1 paper

NM_002266.4

p.E250*

c.748G>T

3 papers

NM_002266.4

p.V267V

c.801A>G

1 paper

NM_002266.4

p.T271A

c.811A>G

2 papers

NM_002266.4

p.R285*

c.853C>T