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.T48P

c.142A>C

Surrounding Variants

1 paper

NM_001316.4

p.T48I

c.143C>T

1 paper

NM_001316.4

p.T48del1

c.142_143delACA

1 paper

NM_001316.4

p.L45F

c.135G>C

1 paper

NM_001316.4

p.L50Q

c.149T>A

1 paper

NM_001316.4

p.L45insFs

c.134dupT

1 paper

NM_001316.4

p.Q54K

c.160C>A

1 paper

NM_001316.4

p.D55A

c.164A>C

1 paper

NM_001316.4

p.I58V

c.172A>G

1 paper

NM_001316.4

p.I58F

c.172A>T

1 paper

NM_001316.4

p.E37G

c.110A>G

1 paper

NM_001316.4

p.A62T

c.184G>A

2 papers

NM_001316.4

p.L33R

c.98T>G