Varaico: Literature-Extracted Genetic Variants

CSE1L

151 papers

RefSeq Summary

Proteins that carry a nuclear localization signal (NLS) are transported into the nucleus by the importin-alpha/beta heterodimer. Importin-alpha binds the NLS, while importin-beta mediates translocatio...

Pfam Domains

IBN_Naa 29–102UCSCImportin-beta N-terminal domain

Cse1aa 156–526UCSCCse1

CAS_CSE1aa 527–962UCSCCAS/CSE protein, C-terminus

Gene Aliases

HGNC Name

chromosome segregation 1 like

HGNC Alias Symbols

CAS; XPO2; CSE1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001316.4

p.S315T

c.944G>C

Surrounding Variants

1 paper

NM_001316.4

p.A317T

c.949G>A

1 paper

NM_001316.4

p.Q319*

c.955C>T

1 paper

NM_001316.4

p.P328S

c.982C>T

1 paper

NM_001316.4

p.D336E

c.1008C>A

1 paper

NM_001316.4

p.D336E

c.1008C>G

1 paper

NM_001316.4

p.I348V

c.1042A>G

1 paper

NM_001316.4

p.D311G

c.932A>G

1 paper

NM_001316.4

p.Q287insFs

c.859_860insC

1 paper

NM_001316.4

p.D283N

c.847G>A

2 papers

NM_001316.4

p.A276T

c.826G>A

1 paper

NM_001316.4

p.E260K

c.778G>A

1 paper

NM_001316.4

p.D358A

c.1073A>C