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.G469R

c.1405G>C

Surrounding Variants

3 papers

NM_002266.4

p.L470V

c.1408T>G

1 paper

NM_002266.4

p.S488L

c.1463C>T

1 paper

NM_002266.4

p.Q449_A450Splc

c.1348-2A>G

1 paper

NM_002266.4

p.E499_E500Splc

c.1498-42T>C

1 paper

NM_002266.4

p.Q504E

c.1510C>G

1 paper

NM_002266.4

p.V506I

c.1516G>A

1 paper

NM_002266.4

p.V506D

c.1517T>A

1 paper

NM_002266.4

p.V507A

c.1520T>C

1 paper

NM_002266.4

p.A523T

c.1567G>A

1 paper

NM_002266.4

p.I447I

c.1341C>T

1 paper

NM_002266.4

p.L425M

c.1273T>A

1 paper

NM_002266.4

p.V417I

c.1249G>A