Varaico: Literature-Extracted Genetic Variants

KPNA1

84 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 10–104UCSCImportin beta binding domain

Armaa 114–156UCSCArmadillo/beta-catenin-like repeat

Armaa 158–198UCSCArmadillo/beta-catenin-like repeat

Armaa 200–241UCSCArmadillo/beta-catenin-like repeat

Armaa 243–283UCSCArmadillo/beta-catenin-like repeat

Armaa 285–325UCSCArmadillo/beta-catenin-like repeat

Gene Aliases

HGNC Name

karyopherin subunit alpha 1

HGNC Alias Symbols

RCH2; NPI-1; IPOA5

Papers

RefSeq ID

Protein change

DNA change

1–12 of 55 variants

6 papers

NM_002264.4

p.S73N

c.218G>A

4 papers

NM_002264.4

p.P350S

c.1048C>T

3 papers

NM_002264.4

p.R36Q

c.107G>A

3 papers

NM_002264.4

p.E448*

c.1342G>T

2 papers

NM_002264.4

p.R318Q

c.953G>A

1 paper

NM_002264.4

p.P4L

c.11C>T

1 paper

NM_002264.4

p.K6R

c.17A>G

1 paper

NM_002264.4

p.N8S

c.23A>G

1 paper

NM_002264.4

p.N8delFs

c.24delG

1 paper

NM_002264.4

p.R10fs

c.28_29fs

1 paper

NM_002264.4

p.L19delFs

c.56delA

1 paper

NM_002264.4

p.M24V

c.70A>G