Varaico: Literature-Extracted Genetic Variants

KPNA3

67 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 11–93UCSCImportin beta binding domain

Armaa 103–144UCSCArmadillo/beta-catenin-like repeat

Armaa 146–186UCSCArmadillo/beta-catenin-like repeat

Armaa 188–229UCSCArmadillo/beta-catenin-like repeat

Armaa 232–271UCSCArmadillo/beta-catenin-like repeat

Armaa 273–313UCSCArmadillo/beta-catenin-like repeat

Gene Aliases

HGNC Name

karyopherin subunit alpha 3

HGNC Alias Symbols

SRP1gamma; SRP4; hSRP1; IPOA4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002267.4

p.L407R

c.1220T>G

Surrounding Variants

3 papers

NM_002267.4

p.P415L

c.1244C>T

1 paper

NM_002267.4

p.K423fs

c.1267_1268fs

1 paper

NM_002267.4

p.V430M

c.1288G>A

1 paper

NM_002267.4

p.L435fs

c.1303_1304fs

1 paper

NM_002267.4

p.G443S

c.1327G>A

1 paper

NM_002267.4

p.D444G

c.1331A>G

1 paper

NM_002267.4

p.E451D

c.1353A>T

1 paper

NM_002267.4

p.E451D

c.1353A>C

1 paper

NM_002267.4

p.E387K

c.1159G>A

2 papers

NM_002267.4

p.K379_G380Splc

c.1138-1G>A

1 paper

NM_002267.4

p.L377R

c.1130T>G

1 paper

NM_002267.4

p.M372I

c.1116G>T