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.D95V

c.284A>T

Surrounding Variants

1 paper

NM_012316.5

p.R105W

c.313C>T

1 paper

NM_012316.5

p.K106E

c.316A>G

1 paper

NM_012316.5

p.E84Q

c.250G>C

1 paper

NM_012316.5

p.S70C

c.209C>G

1 paper

NM_012316.5

p.N52D

c.154A>G

1 paper

NM_012316.5

p.R51S

c.153A>C

1 paper

NM_012316.5

p.R51S

c.153A>T

1 paper

NM_012316.5

p.L47H

c.140T>A

1 paper

NM_012316.5

p.V130M

c.388G>A

1 paper

NM_012316.5

p.T140A

c.418A>G

1 paper

NM_012316.5

p.T150P

c.448A>C

1 paper

NM_012316.5

p.N151I

c.452A>T