Varaico: Literature-Extracted Genetic Variants

Gene:KPNA2
Variant:p.K22Q

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.K22Q
c.64A>C
Surrounding Variants
1 paper
NM_002266.4
p.K22R
c.65A>G
1 paper
NM_002266.4
p.K22K
c.66A>G
1 paper
NM_002266.4
p.G21V
c.62G>T
1 paper
NM_002266.4
p.S24N
c.71G>A
1 paper
NM_002266.4
p.K18M
c.53A>T
1 paper
NM_002266.4
p.R13H
c.38G>A
1 paper
NM_002266.4
p.T9A
c.25A>G
1 paper
NM_002266.4
p.R29C
c.85C>T
1 paper
NM_002266.4
p.R30C
c.88C>T
1 paper
NM_002266.4
p.L38Q
c.113T>A
1 paper
NM_002266.4
p.K42E
c.124A>G
1 paper
NM_002266.4
p.D58E
c.174T>A
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