Varaico: Literature-Extracted Genetic Variants

KPNA5

41 papers

RefSeq Summary

The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC) which consists of 60-100 proteins and is probably 120 million daltons...

Pfam Domains

IBBaa 13–105UCSCImportin beta binding domain

Armaa 115–157UCSCArmadillo/beta-catenin-like repeat

Armaa 161–199UCSCArmadillo/beta-catenin-like repeat

Armaa 201–242UCSCArmadillo/beta-catenin-like repeat

Armaa 252–284UCSCArmadillo/beta-catenin-like repeat

Armaa 286–326UCSCArmadillo/beta-catenin-like repeat

Gene Aliases

HGNC Name

karyopherin subunit alpha 5

HGNC Alias Symbol

IPOA6

Papers

RefSeq ID

Protein change

DNA change

1–12 of 33 variants

2 papers

NM_001366306.2

p.F48L

c.144C>G

2 papers

NM_001366306.2

p.R300G

c.898C>G

2 papers

NM_001366306.2

p.R453H

c.1358G>A

1 paper

NM_001366306.2

p.P7P

c.21A>G

1 paper

NM_001366306.2

p.R39R

c.117A>G

1 paper

NM_001366306.2

p.F48L

c.142T>C

1 paper

NM_001366306.2

p.F48L

c.144C>A

1 paper

NM_001366306.2

p.D59N

c.175G>A

1 paper

NM_001366306.2

p.P66S

c.196C>T

1 paper

NM_001366306.2

p.P70L

c.209C>T

1 paper

NM_001366306.2

p.I92F

c.274A>T

1 paper

NM_001366306.2

p.Q145_F146Splc

c.436-5C>T