Varaico: Literature-Extracted Genetic Variants

KPNA7

63 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. Small molecules (up to 70 kD) can...

Pfam Domains

IBBaa 10–92UCSCImportin beta binding domain

Armaa 102–143UCSCArmadillo/beta-catenin-like repeat

Armaa 145–185UCSCArmadillo/beta-catenin-like repeat

Armaa 187–228UCSCArmadillo/beta-catenin-like repeat

Armaa 231–270UCSCArmadillo/beta-catenin-like repeat

Armaa 272–312UCSCArmadillo/beta-catenin-like repeat

Gene Aliases

HGNC Name

karyopherin subunit alpha 7

HGNC Alias Symbol

IPOA8

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001145715.3

p.C451*

c.1353T>A

Surrounding Variants

1 paper

NM_001145715.3

p.C451W

c.1353T>G

2 papers

NM_001145715.3

p.L450_L452delFs

c.1350_1356del7

1 paper

NM_001145715.3

p.E446Q

c.1336G>C

2 papers

NM_001145715.3

p.A440T

c.1318G>A

1 paper

NM_001145715.3

p.L468L

c.1404G>A

1 paper

NM_001145715.3

p.S477L

c.1430C>T

1 paper

NM_001145715.3

p.S493R

c.1477A>C

1 paper

NM_001145715.3

p.S493R

c.1479C>G

1 paper

NM_001145715.3

p.S493R

c.1479C>A

1 paper

NM_001145715.3

p.L496S

c.1487T>C

1 paper

NM_001145715.3

p.K516insFs

c.1548dupA

1 paper

NM_001145715.3

p.P370S

c.1108C>T