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

1–12 of 126 variants

2 papers

NM_001316.4

p.L33R

c.98T>G

2 papers

NM_001316.4

p.T48P

c.142A>C

2 papers

NM_001316.4

p.I84V

c.250A>G

2 papers

NM_001316.4

p.Q139R

c.416A>G

2 papers

NM_001316.4

p.K158E

c.472A>G

2 papers

NM_001316.4

p.A276T

c.826G>A

2 papers

NM_001316.4

p.S315T

c.944G>C

2 papers

NM_001316.4

p.A472G

c.1415C>G

1 paper

NM_001316.4

p.M1insFs

c.2dupT

1 paper

NM_001316.4

p.M1V

c.1A>G

1 paper

NM_001316.4

p.D5N

c.13G>A

1 paper

NM_001316.4

p.L8insFs

c.22dupC