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

1 paper

NM_001316.4

p.I115T

c.344T>C

Surrounding Variants

1 paper

NM_001316.4

p.I115L

c.343A>C

1 paper

NM_001316.4

p.S112delFs

c.336delT

1 paper

NM_001316.4

p.F123L

c.369T>G

1 paper

NM_001316.4

p.R137C

c.409C>T

2 papers

NM_001316.4

p.Q139R

c.416A>G

1 paper

NM_001316.4

p.V149D

c.446T>A

1 paper

NM_001316.4

p.S103C

c.307A>T

1 paper

NM_001316.4

p.R151_T152insFs

c.453_454ins4

2 papers

NM_001316.4

p.K158E

c.472A>G

1 paper

NM_001316.4

p.R89R

c.267A>T

1 paper

NM_001316.4

p.R89R

c.265C>A

2 papers

NM_001316.4

p.I84V

c.250A>G