Varaico: Literature-Extracted Genetic Variants

KPNA6

50 papers

RefSeq Summary

Nucleocytoplasmic transport, a signal- and energy-dependent process, takes place through nuclear pore complexes embedded in the nuclear envelope. The import of proteins containing a nuclear localizati...

Pfam Domains

IBBaa 13–102UCSCImportin beta binding domain

Armaa 112–154UCSCArmadillo/beta-catenin-like repeat

Armaa 156–196UCSCArmadillo/beta-catenin-like repeat

Armaa 198–239UCSCArmadillo/beta-catenin-like repeat

Armaa 241–281UCSCArmadillo/beta-catenin-like repeat

Armaa 283–323UCSCArmadillo/beta-catenin-like repeat

Gene Aliases

HGNC Name

karyopherin subunit alpha 6

HGNC Alias Symbols

IPOA7; MGC17918; FLJ11249

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012316.5

p.S435S

c.1305G>A

Surrounding Variants

1 paper

NM_012316.5

p.R458H

c.1373G>A

1 paper

NM_012316.5

p.G468V

c.1403G>T

1 paper

NM_012316.5

p.E489D

c.1467G>C

1 paper

NM_012316.5

p.E489D

c.1467G>T

1 paper

NM_012316.5

p.I523T

c.1568T>C

1 paper

NM_012316.5

p.P527S

c.1579C>T

1 paper

NM_012316.5

p.G409R

c.1225G>A

1 paper

NM_012316.5

p.G408E

c.1223G>A

1 paper

NM_012316.5

p.S407*

c.1220C>A

1 paper

NM_012316.5

p.S407*

c.1220C>G

1 paper

NM_012316.5

p.G319V

c.956G>T

1 paper

NM_012316.5

p.D307N

c.919G>A