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.N319K

c.957T>G

Surrounding Variants

2 papers

NM_002266.4

p.N319K

c.957T>A

1 paper

NM_002266.4

p.T322A

c.964A>G

1 paper

NM_002266.4

p.G323G

c.969T>C

1 paper

NM_002266.4

p.Q329del1

c.985_986delCAG

1 paper

NM_002266.4

p.E354Q

c.1060G>C

1 paper

NM_002266.4

p.A364V

c.1091C>T

1 paper

NM_002266.4

p.R366C

c.1096C>T

1 paper

NM_002266.4

p.R366H

c.1097G>A

1 paper

NM_002266.4

p.Q371H

c.1113G>C

1 paper

NM_002266.4

p.Q371H

c.1113G>T

1 paper

NM_002266.4

p.N375T

c.1124A>C

1 paper

NM_002266.4

p.N375S

c.1124A>G